 Ann Skomorowski is a clinical instructor in psychiatry at the NYU Grossman School of Medicine and practices in New York City. Her book, The Carriers, what the fragile ex-gene reveals about family heredity and scientific discovery was published in 2022 by Columbia University Press. Her talk is titled, What the Fragile Ex-Gene Reveals About Scientific Discovery. Thank you for having me today. It's a pleasure to be here. My name is Ann Skomorowski, and I'm a clinical instructor in psychiatry at NYU Grossman School of Medicine in New York City. I'm here today because I've written a book about fragile ex disorders. The title of the book is The Carriers, what the fragile ex-gene reveals about family heredity and scientific discovery. This section of the conference is called Stories that Genomics Can and Cannot Tell. I'm here because I was inspired to write my book by a story. It wasn't the story of the discovery of the double helix, or the race to map the human genome, or the transformation of health through genomics and precision medicine, though those are all great stories. It was a story about women. It was a story about women listening to the stories of mothers and daughters. It was a story about the power of stories. It was about how stories turn into science. And the story turned out to matter a lot. It matters a lot to patients because it was part of defining life-altering new diseases no one had ever noticed before. And it matters a lot to geneticists because it's a story about symptoms in carriers of fragile ex syndrome. Carriers, you may know, are not supposed to have symptoms. I'm going to back up a bit and give you some background information about fragile ex syndrome. Fragile ex syndrome is a rare, single-gene, inherited, x-linked condition typically diagnosed in toddler boys due to developmental delays. I'm going to break that sentence down. A syndrome is a collection of symptoms, often without a known cause. In fragile ex syndrome, these may include intellectual disability from mild to severe, autism, anxiety, disruptive behavior, hyperactivity, and physical characteristics including large ears, a long, narrow face, low muscle tone, and large testes, and soft, velvety skin. Unlike many syndromes, fragile ex syndrome does have a known cause. It's a genetic mutation in the FMR1 gene. FMR1 stands for fragile ex messenger ribonucleoprotein 1. FMR1 usually helps create a protein called FMRP that is needed for brain development. People who have fragile ex syndrome do not make this protein and that lies behind their problems. Rare refers to an incidence of about 1 in 7,000 males and about 1 in 11,000 females. In the U.S., that's about 23,000 males and 15,000 females with fragile ex syndrome. X-linked means that FMR1 is located on the X chromosome. Women have 2 X chromosomes and men have 1. As a result, males are more affected by fragile ex syndrome. If they inherit a mutated X, they don't have a healthy X to balance it out. Fragile X gets its name from the appearance of the mutated X chromosome. It's pinched, so it looks like a little piece is about to break off. Infants with fragile ex have an unremarkable appearance, but as they grow, developmental delays and other difficulties become apparent, leading to referral for evaluation and hopefully genetic testing and a proper diagnosis. Back to the story. The story I'm going to tell you was told to me by one of the world's leading experts on fragile ex disorders, Rondi Hoggerman, a developmental and behavioral pediatrician in Sacramento. Rondi is medical director of the Mind Institute and her work centers on kids with fragile X syndrome. When a child is diagnosed with fragile X syndrome, with luck, that child will end up receiving treatment at the Mind Institute. Rondi is in her 70s and she and her colleagues at the Mind have long relationships with the families they treat with fragile X syndrome. Fragile X is a lifelong diagnosis and many boys with the syndrome will never live independently. They come to the Mind over decades and most of the time they come with their mothers. Rondi is a woman with a big personality and a big heart. She loves kids and she has a way with mothers. Mothers feel understood and safe with her. Mothers trust her and here's the thing, she trusts mothers. So over the years when mothers talked to Rondi about their lives, she listened. Not just to be kind but also because mothers are a priceless source of information about genetic disease. By definition, a syndrome is a description and in the case of developmental disorders like fragile X, mothers do most of the describing. Over many years Rondi and her colleagues noticed something. Mothers of kids with fragile X syndrome had another problem, their fathers. Grandfathers of fragile X kids were deteriorating. Many women complained that their fathers were becoming cognitively impaired, had personality changes, fell frequently and had tremors. Many of the grandfathers had been diagnosed with Parkinson's disease by their doctors. Now in the interests of family education and clinical research, the National Fragile X Foundation runs a biannual meeting for families and clinicians who care about fragile X syndrome. In 2000, Rondi decided to test out this idea that grandfathers of fragile X kids had some sort of dementia and movement problem. Rondi asked an audience of mothers to raise their hands if they had noticed such problems in their fathers. Over a third of the audience raised their hands. Here's the important thing. Most mothers and grandfathers of kids with fragile X syndrome don't have it themselves. They are carriers who don't have fragile X syndrome but can pass it to their children and grandchildren. It's a basic assumption in genetics that carriers are not affected by the condition they carry. But as it turned out from talking to patients, Rondi and her colleagues discovered that as carrier men age, they often develop a syndrome of tremor and gait disturbance that the group named fax tests. Typically, they are misdiagnosed with Parkinson's disease by neurologists unfamiliar with fragile X. A similar story, which I learned while my book was underway, surrounds the discovery of another fragile X associated disorder. At a previous conference for parents and clinicians in 1986, mothers of fragile X kids attended a group session on family planning. The assumption there was that mothers would want to avoid having more fragile X children if they could. But one young mother after another spoke up and said that it wasn't an issue for her because she had already gone through menopause. So another condition affecting supposedly unaffected carriers was identified. Today, fragile X associated primary ovarian insufficiency is recognized as a significant cause of infertility. A genetic counselor who was at that meeting told me that back in the mid 1980s, before there was so much genetic information available, what they had to offer was empathy. She described that meeting as intimate and exhausting. There was an exchange of information. She said the families absorbed and the clinicians listened. These stories are important because they show us what can happen when clinicians listen. Because clinicians listened to what women told them, they could begin to describe a syndrome. Then it was on them to figure out what was going on in the genome that could account for what patients experienced. Clinicians who worked with fragile X families also collaborated with hard scientists, molecular biologists, pathologists, and geneticists. It turns out that fragile X syndrome is different from the usual Mendelian genetic disease that is caused by a defective protein. In garden variety genetic diseases, which follow Mendel's laws predictably, a defective protein results when a gene has a mutation and the defective protein causes disease. This sequence was so basic to understanding genetic disease that it was nicknamed the central dogma by Francis Crick. But fragile X is different. In fragile X syndrome, the protein is not defective. The genetic mutation that causes fragile X syndrome works by stopping production of the protein completely. The gene that codes for the protein is pristine. It should work perfectly, but it doesn't work because of something called a pre-mutation. The pre-mutation is a series of triplet repeats. DNA hiccups called CGG repeats in the promoter region of the FMR1 gene. The promoter region is important in initiating the replication of genes. The number of CGG repeats you have is inherited. Most people have around 30 repeats in their FMR1 genes. We don't understand why, but in some cases, the number of repeats becomes unstable in a family. Over generations, the number of CGG repeats passed from parent to child can increase. When the number of repeats gets to 200, the FMR1 gene stops working. The promoter region is too cluttered. Structurally, the business end of the gene is fine, but it can no longer help produce FMRP, the protein you need to prevent fragile X syndrome. So the child born with over 200 repeats will have fragile X syndrome. But what about that child's mother or grandfather? Carriers whom we have always believed to be unaffected have higher than normal numbers of CGG repeats. A healthy person may have 30. Someone with fragile X syndrome has over 200. Carriers have between 55 and 199 repeats. We understand them to be carriers because they don't have fragile X syndrome themselves, but they can give it to their offspring. As clinicians working with mothers of fragile X boys discovered, mothers and the mother's fathers actually had symptoms. Mothers could have early menopause and grandfathers could have fax tasks, the syndrome of tremor, dementia and gait disturbance. These disorders were due to the pre-mutation. The hypothesis is that the excess of CGG repeats in the pre-mutation leads to buildup of excess RNA in the brain and the ovaries. The excess RNA that results from the pre-mutations being there is toxic to the cells. The brain and ovaries are injured by toxic RNA over the course of a carrier's life. The key point here is that while people with fragile X syndrome have one kind of problem, a missing protein, people with a pre-mutation have a completely different problem, RNA toxicity. The two conditions are totally different. The inheritance of fragile X syndrome is incredibly complicated. The key to understanding it was the recognition of the pre-mutation, and that might never have happened if it weren't for the relationships that a small group of physicians and counselors had developed over many years with the mothers of intellectually disabled children. These were relationships in which mothers could tell their own stories and be heard. As a psychiatrist, I've always been interested in the doctor-patient relationship. Psychiatrists understand the doctor-patient relationship to be at the heart of treatments like psychotherapy, and I believe it is an essential factor for many areas of medicine, even including the way medication works for medical problems. We all know about the power of the placebo effect. Placebo, after all, means I shall please. The patient wants to please the doctor, and thus their medication works. So the stories I heard about the conditions associated with the fragile X pre-mutation struck me as stories about the relationships between doctors, patients, and scientists. I wrote the carriers because I wanted to learn more about their stories. There is another story I want to focus on here because it recurred throughout my work as I interviewed families. Personality traits have been associated with the fragile X pre-mutation. Some of the evidence is anecdotal, meaning story-based, and some is based on formal research by psychiatrists, psychologists, and others who study fragile X families. There is quite a bit of evidence that women who carry the pre-mutation have a higher rate of social anxiety. That's based on rating scales administered by clinical staff, self-report, and studies that show that, for example, infants who are known to be carriers tend to turn away from drawings of faces in comparison with other infants. There's quite a bit of similarly varied evidence that men who carry the pre-mutation may be rigid and inflexible or even on the autism spectrum. So one story that I heard repeatedly from women carriers is that they were raised by harsh fathers. They internalized their father's disapproval and their self-esteem was poor. Then with limited self-confidence and a tendency toward anxiety, they were presented with one of life's most extreme challenges, raising a developmentally disabled child with severe behavior problems. These women were overwhelmed not just because they had fragile X sons, but because they had pre-mutation carrier fathers and were pre-mutation carriers themselves. It was a triple hit. I'd like to close with a final story that came up after my book was published. My book has hardly been a bestseller, and I worked on it for six years, so it bothered me that no one was reading it. I reached out to the National Fragile X Foundation and asked if they could post something about my book on their blog. After reading it, they vociferously declined. They thought my description of fragile X families was overly negative and would scare fragile X families. So I turned to fragile X's biggest research foundation with the same request. I got back a heartfelt moving response from two women who said that reading it was almost unbearable. It told stories about fragile X families that they had given their all to avert in their own families. But at the same time, some reviews popped up on Amazon. Here's one I'm proud of. I could lift my biography and a few chapters of my family's history right from this book. There is some kind of comfort seeing written validation of the physical and psychological symptoms we carriers have been shouting about for years. Bless the carriers who would not give up. Here's another. I know these women she has described. They are my sisters, and because of this one gene, the bond between us can never be broken. I've read you these reviews not to toot my own horn, but to make a point about who wants their stories told by a person like me. The answer is not everybody. Some people want to share their life experience and want to hear about that of others. Some people choose privacy. Some people feel the stories I've chosen reflect an entirely different reality than the one they know. It's the nature of stories that they aren't universal. They are about individuals. Writing the carriers has taught me that what doctors and other clinicians, as well as researchers who care about rare diseases can and must do is create an environment in which individuals can confide. Stories are a goldmine of information about health and disease. Caring about each individual story is not just the right way to practice medicine. It's also the right way to do genetic research. Thank you. Teresa Blank, Mayor Burke is Director of the School of Arts and Humanities and Professor of Philosophy at Gallaudet University, a bilingual university that uses American sign language and English to serve deaf, hard of hearing and hearing students in Washington, D.C. She is the only signing deaf philosopher in the world with a doctorate in philosophy. Her talk is entitled, Genetics in the Deaf Community, Cumulative Decision-Making, Eradication and Flourishing. Hello, everyone. My name is Teresa Blank, Mayor Burke and I am a professor of philosophy and also a bioethicist at Gallaudet University in Washington, D.C. My topic today is genetics and the deaf community, Cumulative Decision-Making, Eradication and Flourishing. I'd like to thank NHGRI for convening this symposium on the topic of Irreducible Subjects and I would also like to thank all of the participants and organizers of the meeting. I'm going to start with a few comments before I dive into my presentation. First, I intentionally designed my presentation to provide the greatest access for deaf people worldwide, meaning I know that not everyone has English or ASL as their first or second language. You may use another sign language or you may rely on a translation of the English with Google Translate, but we don't yet have a good quality translation app for sign language, so I have made the intentional choice to sign more clearly, more slowly and transparently in the hopes of providing the best access for all. My slides contain no images, only text and every word on the slide will be in my talk, so the slides simply reinforce what I will be saying and do not contain any additional information. Here is my overview and I will pause for a moment to let you read it and then look back over at me. The best practice in deaf education is to include a brief pause for viewers to read the content on the slide and then look back at the signing presenter. So I will introduce my context for this presentation, then discuss the deaf community, who is included and why. I will define genomics and discuss how it relates to the potential for eradication. Next I will address the impact of cumulative decision making on the deaf community and lastly I will wrap up with the concept of genomics as it relates to deaf flourishing. I want to start with defining the term irreducible. What exactly does that mean? Subject has two meanings, content and person. I am taking subject in this context to mean a person. So I take irreducible subjects to mean that some things are not reducible to the sum of the parts. By this I mean that who we are as humans cannot be reduced simply to a list of characteristics. A person is not just the sum of their parts. We need to employ a holistic perspective of people and consider their intersectional identities. It's especially vital to recognize when thinking about intersectional identity, how it applies to policy and law. Some of you may be familiar with the legal scholar, Kimberly Crenshaw. She has written about intersectionality and the legal conundrum that it creates. For example, a black woman is forced to choose to seek justice using either gender discrimination laws or racial discrimination laws. She cannot sue based on both. Now this is an oversimplification but the point is that sometimes we are forced to choose to represent ourselves in the world by only one of our many intersectional identities. This leads to my next point about the danger of reducing deaf people to the one characteristic of deafness. Deafness is only one part of who we are. For example, I am more than just deaf. I am a woman, I am straight, I am a professor, a mother, a daughter and so on. These many identities can't be reduced to a single one. Doing so leads to dangerous oversimplification. Next I'd like to discuss some terminology. You may have heard the term uppercase deaf, which refers to those who use a signed language and identify with the signing community. You often hear the term hearing loss used but I prefer to describe it as auditory variation. Regardless of which term is used, it is an issue because it focuses solely on the ear and for many sighted deaf people the ear is not what we identify with but for the purposes of this lecture I will refer to uppercase deaf and incorporate the medical definition of hearing loss. If you are interested in learning more I refer you to my other writings which elaborate on this topic. Lowercase deaf refers to those with hearing loss who do not identify with the sign language community but prefer to use speech and speech reading. Then we have heart of hearing people which refers to those who prefer spoken language and have hearing loss. Now this is a somewhat false categorization because there tends to be overlap among the different communities. Now I identify as deaf but I was raised identifying as heart of hearing and I do use multiple language modalities. You can't always fit people neatly into one category or another many do exist in overlapping communities. I would like to also give you a sense of the assumptions that I'm making in this talk regarding culture and community. First I believe that individuals typically cherish their cultural community and want to see it continue and thrive. This holds for both deaf and hearing individuals regardless of their language or preferred language modality. We all value the communities that we come from and I believe that most of the time we also desire to preserve and defend our cultural community from eradication or extinction. I think we can all agree on these assumptions they're not controversial. However let's take these two additional concepts of genomics and genetics defined on this slide. Genomics studies all the genes of an organism or a person. It also deals with how an individual's genes interact with each other and the environment whereas genetics is the study of individual genes or groups of genes. For example Conexin 26 also known as GJB2 is a gene linked with deafness. It's a biological attribute of many in the deaf community. Some genes cause deafness in addition to other attributes. These are known as syndromic for example Usher syndrome as well as genes that are non-syndromic meaning that their only biological effect is deafness. Now that we've covered these terms and definitions I will move on to analysis of some questions and considerations that we can discuss today. Eradication is a serious and frightening prospect. With heritable human genome editing we have the potential to remove a gene from an individual and all of the individual's potential offspring and descendants. What this means for those who have deafness linked genes and there are many of this type of gene is that those genes can be identified and deleted ensuring that an individual will not pass on hereditary deafness to their descendants. Recessive genes can disappear and then reappear generations later and this can occur multiple times throughout generations but if a gene is actually deleted from an individual's genome that eliminates any possibility for a given trait to be passed on. In the case of editing out deafness linked genes this could result in many fewer deaf individuals being born. Now how does this connect with the concept of cumulative decision making? Couples or individuals who are potential parents and have access to reproductive technology will make values based choices about what type of child they hope to raise and parent. For those who value their membership and experience in the hearing world they may not choose to or even may just allow this to happen naturally to have a deaf child be born. They might not use any medical intervention or they may discover while their child is still in utero that it possesses a deafness linked gene. Now while such technology currently does exist let me be clear that this is not something that is being done yet but it has the potential to happen in the future. So if parents choose to genetically alter their children to be hearing this has the potential to reduce the critical mass of the signing deaf community over the next few decades possibly eradicating it entirely. This ties in with the concept that we philosophers call the doctrine of double effect or DDE. This is when an individual's choice has an unintended but foreseeable consequence negative consequence. So choosing to have a hearing child whether that is done via one's selection of a mate or selection of a fertilized egg without a deafness linked gene through PGD or pre-implantation genetic diagnosis or actual alteration of genes these would be an individual decision. Not a choice against the signing deaf community. People may value the deaf community but not themselves want to have a deaf child and there is a tension between these two outcomes that's challenging to resolve. The cumulative effect of these choices will impact the continued existence of the signing deaf community and this presents a significant ethical dilemma. I want to throw out one more concept for us to consider. You may be familiar with the concept of bodily integrity which is the idea that humans once born have the right to keep their body intact regardless of their age or ability to express their preferences. This issue arises for example with the practice of circumcision as well as other bodily modifications. There are exceptions for life-saving interventions but for other types of alterations at what point does a child have the ability to refuse? For very young children parents make those decisions. Now extend that concept to genomic integrity and the right to make one's own decisions about one's genome. What's the argument to be made there about whether children or even zygots have a potential claim to their genomic integrity? Whether to be made hearing or made deaf? What is the connection between such potential alterations and the flourishing both of the individual as well as the community? How might the loss of a critical mass of signers impact deaf flourishing? We know that when a community maintains a critical mass its language thrives and evolves which provides opportunities for varied relationships and flourishing but the lack of a critical mass places a strain on the community its members must focus on survival both collectively and individually. Resources such as government support may become limited we have seen this already with some disability groups whose numbers have dwindled such as Down syndrome. Fewer babies being born with Down syndrome has resulted in fewer services being made available to that community. Now the second question I would pose to you and again as a philosopher I raise these questions for your consideration. Is there an ethical responsibility to preserve endangered languages and cultural communities? If so how does that interface with deaf and disability identities? What value do we place on this on this community identity relative to the majority? I leave that for you to consider. This wraps up my presentation. I hope you will have some questions for me and I look forward to our upcoming discussion. You can contact me through Gallaudet University at the email address shown here Teresa.Berke at gallaudet.edu. Thank you. And now we will hear from a panel which is the first surprisingly LC research group devoted to disability and genomics under the stewardship of disabled individuals. The panel has the theme the guru program know LC about us without us. Great thank you. Well thanks very much for joining us this afternoon. My name is Jim Tabry and on behalf of my co-presenters who I'll introduce you to here in just a minute. We're all very excited to talk to you today about something called the guru program which we host here at the University of Utah and this irreducible subject symposium that is being hosting is a perfect venue for it. The design, the conception, the administration of the guru program going on five years now was very much informed by many of the principles and ideas that are at the heart of this irreducible subject symposium. The tension historically between genetic science and the disability community efforts towards anti-abolism and greater inclusivity. These were things that were really built into this guru program and five years on we realized that it was an opportune moment to try to take a step back and reflect on the lessons we've learned from that effort as well as the challenges that we've encountered and so we're hoping to share that with this group today. We hope it'll be of some use to you and we're also hoping you might have thoughts of your own on how we might do it better because every year we tweak it and every year we try to make it better and so if you have thoughts we'll certainly welcome them. The plan is I'll take about 10 minutes to introduce the guru program to you and then it's going to turn into a conversation. We've got four people here that have all been intimately involved with it for a number of years now and we're going to ask some questions that probe different issues that we think this group will be interested in and then we'll give our different perspectives on those questions and the hope is again we'll be able to tease out what we think have been some lessons that we've learned as well as try to put our finger on the kind of challenges we've encountered and the different ways we've tried to navigate those challenges. So before I introduce the guru program just a couple bits of background information which I think may be redundant for some people listening who are well aware of the history that's led up to something like the symposium that we're at here today but for others they might not be aware and so it's useful just to get this out there so that you know where we're coming from and there are two programs that are hosted at the genome institute at the NIH that really set the background for the guru program. One is something called the ELSI program. ELSI is an acronym for ethical legal and social implications of genetics and genomics. It was created at the very beginning of the human genome project when it was realized that the information that could come out of that could raise a host of ethical legal and social issues and so the thought was that a portion of the funding devoted to that science should also be set aside to think about analyze identify address how that information should be obtained and used in a responsible manner and so that program has now been around for over 30 years. There is a vibrant ELSI community of scholars across the United States and even across the world interested in these issues. One of the things the ELSI program at the genome institute does is fund something called centers for excellence in ELSI research that's SEAR that's the acronym and there are a handful of SEARs across the United States and at the University of Utah we have one of these SEARs we call it UCR for the Utah Center for Excellence in ELSI Research and that's the organization here at Utah that the guru program is embedded in and then the second program at the genome institute which is important to keep in mind is their DAP program for diversity action plan that was created two decades ago with the express purpose of increasing diversity among the pool of scientists and scholars doing basic genetic medicine basic genetic science genetic medicine ELSI scholarship the genome institute has funded many of these over the years it currently funds over a dozen of them and so the guru program here at the University of Utah is one of these diversity action plan programs and what we're really excited about and proud of is the fact that it was the first of these diversity action plan programs that focused specifically on disability so let me dive into the guru program then and sort of answer three questions that I hope will frame it in a useful way the first is a why why did we create it second is a what what is it actually made up of here and then the third is a who and that's when I'll introduce you to my terrific co-presenters so the why did we create a program focused on disability at the University of Utah it goes back to that concept that the ELSI program funds of these seers remember ours here at Utah is called the Utah Center for Excellence in ELSI research it was first created in 2016 each of these seers has a very specific focus so there's a seer at Columbia University where our own Maya Sabatello is joining us from that focuses on psychiatric and neurogenetics there's a seer at Johns Hopkins University that focuses on infectious disease and genetics the seer here at Utah has historically focused on prenatal and newborn genetic screening and testing that's important because when you think about the history of the tension between disability community and genetic science and genetic medicine very often not exclusively but often those tensions played out at the point of newborn prenatal genetic screening and genetic testing and so for the first couple years of the use here existing we kept realizing that we were bumping into issues of disability but we did not have any specific plan in place to intentionally bring people with the lived experiences of disability to the table to participate in those ELSI conversations and what became clear was we were essentially violating this principle among the disability community of nothing about us without us where the idea is if conversations are going to happen about policies affecting members of the disability community if conversations are going to happen about technologies that could have impact on people living with disabilities then people with disability should be a part of those conversations that they shouldn't happen without them and we weren't doing a good job at use here of recognizing that and so when the opportunity came along to apply for one of these diversity action plan programs it just felt natural to try to focus hours on disability and so you know the sort of the the line that we use here is it's about no ELSI about us without us that if we're going to have these conversations here about these issues that impact members of the disability community then we should also be doing working hard to make sure that those voices are a part of the conversations and creating a program that bring those conversations in was one way to do that so that's the why the what the real I would say a key element of the guru program is what we call the mentorship network so on the on the right hand side there I've got an image that's got a box that says guru student in the middle and then there's a series of mentors all overlapping and surrounding that guru student and that's our mentorship network one of those circles is a local project mentor that is somebody at the University of Utah a faculty member who conducts ELSI scholarship here they might be a law professor interested in legal issues about genetics they might be a communication scholar interested in how genetics plays out on twitter they might be a philosopher like myself interested in things that philosophers think about with genetics that person is who the guru student works closely with each guru student is paired with a local project mentor to work on an existing ELSI project we also have an external mentor around the guru student the external mentor is somebody who is not based at the University of Utah so that's the sense in which they're external the other important element is all of our external mentors themselves identify as having a disability and so we make sure that the students have a direct mentor who has experience living with disability there's another circle there that says near peer mentor each of our guru students is either a mentor to a younger guru student or a mentee of an older guru student and so it creates a near peer mentorship relationship and then there's one final circle there that says guru mentor we think mentorship networks are fantastic they sort of create an infrastructure around the students to provide them with all sorts of resources one risk of that though is that there's just too many moving parts and so the guru mentor sort of takes charge of overseeing the whole mentorship network and making sure that it's all heading in the same direction there are a couple other features of the guru program i'll go through these very quickly because i think it's really the network that we're going to talk most about today the students who participate in the program get curricular resources they get training in the responsible conduct of research they take they take ELSI courses so that's part of it they also have research resources dollars to go to conferences to present their their research to conduct their own research and then they're also embedded in what we call our mentored r.a. community here at utah so in any given year our center for excellence in lc research is probably funding between 10 and a dozen students working on lc projects with faculty members and so the guru students are just a subset of that larger group and much of use here here at utah is really about nurturing those students featuring their work talking about what they're doing it's creating a community around our students and so the guru students are a part of that use your community in part via their membership in that mentor r.a. community we fund four students a year so since that the program began in 2018 2019 that's resulted in 15 students and we've been really proud of where they've gone genetic counseling programs medical school graduate school private industry tenure track position at a university research administration really diverse outcomes in terms of career trajectories and each one of those students is somebody who's now more familiar with this lc scholarship more familiar with thinking about issues of disability in the academic and research environment and so the hope is you know that that we've played some small part in them moving on to something that they're really excited about doing so finally the who what I'm going to do now is introduce you to my co-presenters and then we'll dive into a series of questions and and and all kind of share our perspectives on those so our first co-presenter is Maya Sabatello she's joining us from Columbia University where she's an associate professor she specializes in law bioethics disability and is really becoming well known for her work on the research conducted under this umbrella of precision medicine the reason she's here today is because she's one of our external mentors and in fact Maya's been an external mentor since the program began five years ago and so she's been in that role among the longest time and so she has a lot to say about that perspective we're also joined fortunately by Aubrey Mansfield Aubrey is a graduate student here at the University of Utah and she's currently working on earning her master's degree in recreational therapy Aubrey joined the program last year in 21-22 and very happy that she stuck around and she's participating again in the program this year and so she's able to give the perspective of a student in the program next my colleague here at the University of Utah is Leslie Francis she's a distinguished professor of both law and philosophy so she has appointments in both our college of law and our department of philosophy here and really an internationally renowned expert in privacy and confidentiality bioethics disability all these issues as they play out particularly in the domain of healthcare and like Maya Leslie has been around since the very beginning but rather than serving as an external mentor she's been a local project mentor and so inevitably every year one of our students gets paired with Leslie and has a terrific experience working with her on one of the projects that Leslie's working on and then finally again my name is Jim Tabri I'm a professor of philosophy here at the U the reason I'm here is because I've been a PI on the program since the very beginning and I'm that guru mentor which again basically just means sort of the person that's making sure the mentorship network is all on the same page and sailing in the right direction and that's something that brings me great joy and I'm happy to do it and I'm happy to be here and talk to you about it today so what we're going to do now is have a conversation basically what we did as a group was thought about what are different topic areas where we can pose some questions and then bring our different perspectives in these capacities as an external mentor as a local project mentor as an administrator like myself as a student to think about these issues and how they've played out and so the first topic area that we're going to talk about is this this matching of matching of students with mentors and both the project mentor as well as the external mentor who has a disability and the experience of that and so these were the kind of questions that we posed and different ones of us will sort of respond to different versions of them what attracted you to the program and what have you gotten out of it what makes for a well matched mentor in this in this particular program what would it mean to have the same disability or a different disability or the same research trajectory or the same sort of research interest and does that matter and then finally how does it work to be involved in this program if you don't identify as having a disability and so Aubrey is going to kick it off and then we'll hand it to Maya and then Leslie and I'll share my perspective at the end. Aubrey do you want to take it away? Yes thank you just from the perspective as a student in the group program I found that having those external mentors like Maya who also identify as having a disability and are in academia and research is part of the different experience for me. I myself found that as a part of having a disability. Thanks Aubrey I know we're also fortunate that you're in the program. Maya would you be willing to go next? So thank you so much everyone and Jim I'm so delighted to be on this panel and I'm honored to be a part of it and I also want to say thank you to Utah for putting off the group program and inviting me to be a member of this community. As Jim mentioned at the beginning I joined early on I remember getting the email from Jim and Dr. Jeff at the Botkin and I thought it was such a fantastic program and that I'd simply love to be part of it in whatever role that take me. I have been a disability rights advocate for most of my life professional life included and thought that the group program really offers a great opportunity for inclusion in LC research. So as we started our journey together I was matched with a student whose interests were in genetics and communication. We had some great chats about this topic and only later on I learned that she had an eye condition as well which created a safe space to discuss shared experiences and challenges first regarding our work but also in how we get things done in our roles and how we experience our environments. However when the question as to whether pairing mentors and mentees with the same disability came up I do remember that I thought is that practical or is it even essential? There aren't that many faculty members with disability some conditions are rarer than others and people with the same condition may have very different needs perspectives and life experiences and I also wasn't sure what counts as the same disability. It just doesn't have a clear cut response as one might think. I was thinking is that the outcome of being blind or low vision or the cause of this outcome whether it's injury a disease or once genetic makeup and at the same time I thought that there are these overarching issues in the experiences of people with disability that transcend disability subgroups and that can facilitate a good match between mentors and mentees and that would include a starting point in the interaction that assumes abilities and not inabilities. It's having understanding of issues such as needs for accessibility and accommodation. It's having respectful language and ongoing engagement in the meetings with students and research community partners that I've had over the years. I continue to learn new things about accessibility, challenges, identities and sensitivities which hopefully I can implement later on as I go as I move forward as well. And finally I think mentors need to have a good grasp of structural issues that will impact one's professional trajectory such as stigma bias and self-advocacy in academic contexts that are not always responsive or even listening to the needs of people with disabilities. So kind of more generally when I think about the core program and how it can further be expanded to other places in the future I think it's critical to expand disability related knowledge awareness and skills to mentors with diverse abilities and those without disabilities. And I think that really this is a great thing that the mentorship of Google offers is the first step and it's really the way to go to move forward. Thank you and I'll give the torch to Leslie. Thank you and let me also say that this is a program that I was so excuse me excited when Jim first started proposing it because I've spent quite a lot of time writing about disability rights. I also in my role as a law professor and a lawyer I've defended people with disabilities particularly in guardianship proceedings when they're the subject of guardianship I'm deeply committed to disability rights and I'm committed to disability rights in the form and I guess two very important forms one is inclusion on equal terms and the second is self-advocacy that is although I'm a unable person I would I'm deeply committed to the nothing about us without us because of the importance of the voices of us. So let me pull this back into mentoring. Since the late 1990s I've co-authored frequently with people with disabilities beginning with the late Anita Silvers but continuing with other colleagues including Michael Stein and Kevin Minns. I those are peer relationships and I've learned an incredible amount from each of my co-authors about how to think about relating in ways that are not patronizing taking over in any way but these are peers they fight back in fact in some situations they're not even peers they're senior to me in some ways that was true of my relationship with Anita so I started to worry about is mentoring different now my approach to mentoring is very much an approach that my view is that my role as a mentor is to help to do what I can to help the folks that I mentor succeed in their own way it's a facilitative role not a determinative role and there are many different ways that my mentees have flourished and I think what I'll say in conclusion is that the most challenging thing for me to as a mentor has been how to bring that same commitment to flourishing into contexts in which I've had to think about accommodation but the most exciting thing has been seeing the flourishing take place in the same way it does with any students that I mentor thanks for that Leslie this is Jim now I'll just sort of quickly add here at the end before we move to the next question a point that maybe echoes what Leslie just said like Leslie I do not identify as having a disability and so that puts me in this space as something of an ally which brings with it all the kind of issues that surround allyship about respecting boundaries about knowing when you have something to share and when you should just sort of stay back and not say anything about how to offer opportunities without being pushy and so that's my role in this place as an ally but I'm also like Leslie a mentor to students in the program I'm one of the LC scholars that they get paired with in fact Aubrey works with me on a project and I'm also administrator of the project and so I need to be mindful of things like you know reporting and make sure that we're you know doing everything that we do to hold up our obligations to the genome institute that funds the program and so finding that balance between being a mentor as Leslie was talking about being an administrator of the program and also doing it in a way that's respectful of the fact that at the end of the day what matters most in this space is the students and as Leslie said they're flourishing and doing that in a way where I'm an ally for them it has been I think the tension and the challenge that I'm always trying to navigate for you know five years now we'll move on to the next question then this is one about what guru can and can't do about structural ableism and and the extent to which despite guru's best interests we still bump into things that we can't change so the question is where does a program like guru bump into structural ableism in both the academic environment and the research environments which challenges its anti-ablist agenda and for this question Maya is going to kick it off. Thank you so much again so you know a mentorship program like guru is really great in providing ongoing support and advice to students with disabilities as a mentor I have had multiple meetings with guru students both as a group but also individually including both students that I was directly matched with as well as students that I was not directly matched with with the idea of trying to really help and identify where are the challenges the environmental challenges and how we can remove them or help self-advocate for ourselves as people who are trying to navigate the system. I do want to say however that mentorship can go can only go that far and it cannot dismantle ableism systems alone and that kind of brings us back to the broader perspective of ELSI research and NIH funded studies in general students with disabilities are not encouraged to choose scientific careers and while there's been some progress in the past few years recent national reports show that medical schools where which are the primary sites of NIH funding are significantly underrepresented by individuals with disabilities estimates are just about five percent of medical students and only three percent of clinicians identifies having a disability and that's compared to national estimates of 26 percent of the adult population and pre-pandemic. We also know that medical schools tend to take a highly medicalized approach to disability and have very little education about socio-political aspects of and lived experiences of disability and there is a strong disability bias in those areas where people with disabilities are often presumed to lack competency and have no abilities lack capabilities regardless of their actual abilities. So getting the foot of the door of ELSI and NIH funded research is a real challenge and I think it's really an amazing thing that the group program is so beautifully doing right now with a great success. I do think however that we need to also think sort of broadly how do we move forward and how do we move to address other challenges of promotion and security which have a need to rely also on sponsorship which is again really beyond what guru or any other individual mentorship program can offer. I want to say a few words about sponsorship here just because it came it became such an important institution in both private the private sector and academic medical settings but it does not receive much attention in the context of people with disabilities. So sponsors are generally people who are well-established in the field powerful from an organizational perspective and who have a or a professional place of being willing to share the stage. They're willing to take under their wing a protege or a student or a junior faculty and provide him critical professional opportunities being at the right meetings with the right crowd with all the loud compliments that come about abilities and of course advocacy on behalf of the protege for promotion and positions and more research opportunities. Now of course sponsorship also depends on performance and requires the protege to do a great job so part of what we're doing with the core students is really to try to push all right how to push the boundaries in terms of abilities showing performance showing capacities and doing what we need to do but we also know that performance evaluation is not objective and it depends on one's gender on one's race capacity and of course on one's disability and as it turns out when we look at the academic settings it comes down to the fact that sponsors who are overwhelmingly men and white often choose protegees who are just like them that same gender same race same interest same management style even same skills and so bringing it back to the disability lens you know the NIH funded research surrounding lived experiences of people with disabilities is limited and sponsors with disabilities are less likely to exist so we can push on with mentorship and providing those opportunities but I think we also need to start thinking about how do we change a little bit the system so that scholars with disabilities students with disabilities not only can address the presumptions that they're less capable and dependable than others based on their gender and racial identification but actually that they can overcome this not they but that others recognize that they are capable which is a major challenge to cross so thinking about expanding the group program to increase inclusion of researchers with disabilities we really need to start early on and work through the cracks and structures all the way up providing mentorship from the beginning but also addressing the systemic issues from including students with disability as part of all diversity equity and inclusion programs and academic and research settings we need to create disability-friendly LC and NIH funded research agenda but we also have to develop anti-disability bias curriculum to address the biases and to ensure that students with disabilities really have the opportunities to join diverse projects and programs and we kind of have to shake up a little bit the institution of sponsorship in research settings to ensure that there are sponsors with and without disability who can help paving the way for successful careers of emerging LC scholars with disability thank you and I think next one is Leslie so this question presses disability as social disability is as much about social structures as it is about the physical intellectual psychological characteristics of the person and one way we bump into structural labelism is that there's a whole lot about society we don't control from whether they're stairs to get into a building to whether the transportation in a city where a conference is being held isn't as accessible as it should be so people simply can't get there we also don't control the structure of programs 40 minute presentations function differently when people have communication difficulties for example then the other quick point I would make here is that when you bump into structural ableism it doesn't look the same for all kinds of disability physical disability I think bumps into it in very different ways than mental illness or cognitive disability and one of the things that you know is true of many programs in higher education is that they address physical disability far more than they do successfully either mental illness or especially cognitive disabilities so with that I'll pass it to Aubrey for students who identify as having a disability and in this case me and my fellow students are able to develop relationships with people who are young and supportive and we're able to explore ourselves in an environment that is very inclusive I think about the difference between being in the environment that Google creates in this goal we've only got about four or five minutes left so I'm going to have us move on to the final question and then maybe encourage us all just to maybe share one thought on this particular issue and that last issue is sort of broadly under the umbrella of identity and privacy so different ways to formulate this how do we balance the priority that we place on incorporating the perspective of people who have experience living with disability against one dimensionally reducing participants to that characteristic concerns that we've expressed about having a program like Google that centralizes around disability and whether that makes it harder to be cognizant of issues of intersectionality or it can be off-putting for participants students in the program who don't necessarily see disability essential to their identity and then finally how should a program that revolves around disability protect the privacy of those students who don't wish to have their disability status known and so for this one Leslie is going to kick it off so just quickly the law is both our enemy and our friend because the way U.S. disability law works in order to receive accommodations you have to reveal your disability it's on you I think that's problematic I think it violates privacy and it often puts people in vulnerable positions but it's also an advantage because it means that it's a hoop you got to jump through and so if you do get accommodation it doesn't mean we need to think of this as one of your critical features it's just about how the world works right now thanks Leslie Maya thank you yes so I think the question on identity and privacy is really a challenging one from a social and professional perspective for me it raised a lot of questions about what counts as a disability for the purpose of identifying myself as a person with a disability how disabled do I need to feel or is it as or how severe visible limiting or other medical criteria must one have in order to fulfill or identify as a having a disability it definitely raises a lot of questions about are you ready for this outing it's not an easy process not everyone wants to share it but it also raised questions for me about is disability identity these central features that represents a person as a faculty mentor and so forth and I think even at the time I emailed Jim and I said well there's so many facets to our identities to our lives can we single them out or how or do we have to think about it in a different way being sort of more intersectional in our perspectives and how all of our experiences shape together to make us who we are I'll stop here I think I just also say that um you know from a broader perspective I do think we need to think about whether or not the identification is the major thing but rather how we can create systems and environments that are supportive of everyone's needs reality is that when when a um a high a new hire um is coming on board to any program um and it's a successful individual we usually they usually say something like we need xyz to do their job and we see them as assertive smart strategic and hence successful when they require and demand to have those assistance and supports I think we should think about scholars and students with disabilities who request accessibility and accommodations in the same standard merely as individuals who want to do their jobs and to do them well and I think that the identity here issue really has to be put aside we have to make sure that they get the opportunity and the tools to do what they can what they what they need to do thanks Maya and Aubrey yeah I think for me when it comes to this issue about disclosure and privacy the biggest lesson I've learned in being involved with guru is you you uphold thanks I'll also share just one thought on on privacy um you know as somebody who's sort of helped design this the worst case scenario for me would be a situation where a student who did not want to have that information about them uh revealed and so I think in the guru program we've definitely aired on the side of protecting that privacy when a student applies to the program we don't ask them to tell us anything about their disability status that's entirely up to them I mentioned earlier how the guru students are in this larger pool of students that use your funds every year that we call our mentored r.a. students um uh we ask uh anybody working with the guru students just to identify them as being a part of that larger group of mentored r.a. students and so by being in that larger group there's no way to discern who might be in the program or not be in the program and so we definitely try to do everything we can to protect the privacy of the students in the program it doesn't create a bit of attention though because I have to say I often worry that all that emphasis on privacy can sometimes create a situation where we are um uh signaling to the students that hey your disability status is something that you should keep private um and for younger students who are maybe even just sort of thinking about issues of disability and identity uh for the first time or or in a serious way for the first time um I worry that it's kind of again sending a signal to them that you should keep that private and and that's not something that we want to signal we want to signal that it's entirely up to you how you navigate that and so protecting the privacy without sort of sending a message about the right and wrong thing to do has been something that um that we that we often wrestle with um well let me just finally say on on behalf of all of us um thanks for for participating in this conversation about the guru program big thank you to Maya and Leslie and Arby for doing this and for the Genome Institute and University of Buffalo for hosting and we look forward to hearing from the audience thank you welcome back this is Christopher Donahue and Mike Rembus unfortunately Professor Burke is is not able to join us but I just want to emphasize again that um we've had uh not only in this session but throughout the day just these really impactful presentations and I'm I'm really enjoying also all of the audience interaction as well so with with that in mind I'd like to just have Mike start us off uh with uh the first question here for okay go ahead all right thank you thanks Chris and thank you to all of the the presenters for your presentations I found them to be really interesting um and very enlightening and really thought and really kind of provocative um and so I want to um just take a minute to think about some of the the sort of ideas or themes that were addressed in the in the presentations in the talks I mean we we heard people talking about um telling difficult stories and the importance of telling difficult stories about the subjectivity of storytellers and how we interpret those stories issues of agency and power and for lack of a better word voice um in in storytelling how we might think about balancing this really important idea of nothing about us without us which has been the mantra of the disability rights movement for decades with structural barriers to participation in the lack of of disabled people in leadership positions and with credentials and and and that sort of thing and so there's just there's a lot here to think about and so I I want to perhaps um maybe just ask a sort of open-ended question to begin with that any of you could address or answer and that is the role of storytelling in what we might consider to be more scientific or medically oriented work what is the role of stories and storytelling and more specifically disabled storytellers in that work so that's not really um my area of expertise it might be more the area of expertise for other speakers but I think some of it is about providing a kind of epistemological access that is a sort of insight that others cannot have when they haven't experienced it from the inside um so that would at least be something to get us started off the question of whether there are either unique or potentially privileged ways of accessing knowledge well I'll add I think there's a real humanizing power to stories which I think is particularly important in this space one of the questions that came up in the q and a was about sort of why does the sort of medical community or medical education in particular often sort of wrestle with some of these issues and I think one possible you know way that that can happen is um if you're you know if you dehumanize patients and sort of just think about them in terms of like conditions that need fixing or problems that need solving um uh you're more prone to um lose track of of all the stuff that we've been listening to and thinking about and talking about for the last two days and I think you know stories whether the stories that Anne shared with us or or that that I've learned from the guru students over the years it it humanizes you know not just the the people involved but the the um the lived experiences that to remind us that it is much more than a simple diagnosis yeah thanks Chris did you have your hand up well I was actually going to say that I may nudge Anne a little bit because this is this this question is precisely geared around a lot of the issues that the carriers bring up so I have a comment but I want to see if my nudge works at this point in the afternoon for Anne to talk a little bit about this so thank you um sorry I would have jumped in earlier but I was having trouble getting the screen uh visualizable and in a in the way that would be helpful um I think you know basically this is what my talk was about um the experiences that I had in writing my book were all about hearing from families of children with intellectual disability and hearing about the disability and the travails of uh family members who are raising those children and who may have had um who may have had disabilities themselves um I I had have had some anxiety about being this storyteller because I don't have fragile x syndrome I don't have a child with a severe intellectual disability and I wondered about my right to tell these stories um what made me feel that I could tell them was really two things one is nobody else was doing it and I felt like that was a void that I could jump into and the other has to do with the again the relationship that I was speaking of between doctors and patients the the passion that the families who were helped by Rondi Hagerman and her community of co-researchers and co-clinicians was so great that basically they felt that they would do anything talk to anyone share anything get really intimate invite me into their homes share some of their most painful moments with me because of the connection that they felt with those caregivers so I think that one way that you earn the right to tell these stories is through your own compassion and the compassion of the people that you work with I don't know if that answers your question yeah no no I think that that's a brilliant answer thank you very much I'm wondering if we can maybe switch a little bit but still continue in this same vein um you know the stories that early disability rights activists told were about structural barriers to participation in society they created the social model of disability you know as a sort of political you know a way to politicize disability and in doing that they separated disability from impairment and left impairment largely sort of untouched under theorized and I think rightly so focused on gaining access to the world which has been you know fundamentally transformative in the way we think about disability and about the world and especially the built environment more recent scholars are thinking in more complex ways about impairment about the body and its importance in thinking about disability and disability studies and disability rights and I'm wondering if any of you would like to speak to this idea of thinking about the body and about disablement and whether your work in working with disabled people or thinking about kind of the difficult stories that we tell about disability you know if that has made you think in different ways about about the role of embodiment frankly and in in doing work in disability disability studies or disability related research so this is a slightly different point but I think it's related one of the things that I think about a lot is whether the focus for realization of rights should be individual accommodations which are adjustments to the bodies and minds of particular people or world design changes the technical term for that is in disability anti-discrimination law is a modification modifications like curb cuts benefit everyone they don't they aren't and they don't have to be requested by people so you don't have to reveal anything for a modification when Chris asked his question about that was sort of a criticism of the idea that we should be thinking in terms of disability as universal if I've been part of the response then I would have said there's a different way than just thinking about it as everyone could be disabled but about thinking about universal design which is a different way of universalizing and some of the problems that I think we have in figuring out what anti-discrimination projects really need to look like is getting away from a focus just on individualizing it and moving towards when is it possible to make world design changes that don't give rise to any of the kind of disability cons special privileging all those sorts of problematic criticisms I think that's a really really good point and of course universal design has been really important in the disability rights movement Maya thank you so much just sort of thinking about this distinction between disability and impairment and structural barriers I think this is a great question you know disability is probably one of the most diverse and heterogeneous communities that we have and I think experiences of disability and impairment vary accordingly there's no one experience for everyone and I think also from my work both my personal and my work interactions with folks who both might have been born with a disability or acquired it later on we can see that there are differences right and how much the impairment preset takes place if it's if it involves pain if it involves if you have accommodations if you have accessibility these are all issues that impact how you experience your impairment and therefore how you live your life as a person with a disability and I think one of the main concerns that I hear again and again is that the initial disability or the initial impairment is not necessarily what pictures or what really takes the whole but it's the concerns about what that initial original impairment leads to given the lack of access and accommodations in all other spheres and what are the subsequent impairments and disabilities that emerge because of those issues of social designs structural discrimination and so forth so I think these are intertwined but I don't think we can have one answer for everyone I think these are I mean Tom Shakespeare's work is exactly on these issues right but it's it's very diverse from within and I think we have to take that into account as well yeah yeah I think that's a really really important point to make and to Scandinavian scholars refer to that generally as the interactionist approach interactionist model yeah Chris did you want to I just want to jump in here and say there's a there's a brilliant article by Quill Kukla who's the head of the Kennedy Center for Bioethics and their article is entitled something like and I'm paraphrasing here what qualifies as a as a genetic disease or what qualifies as a disease and I think this goes to the core of a lot of what we're talking about in a core of one of my worries because for example if you're in a rare disease community the medicalization of your rare disease is really important for funding purposes for for advocacy and I and this by the way this is not my argument I'm paraphrasing Dr. Kukla I think that when you start talking about so it really matters what community you're talking about within disability and I think that's really important to understand and I think we're really getting to that and I think the balance of this entire symposium has been hinging on how do we think about the the the issues around reductionism essentialism structural ableism and the fact at the same time that we benefit immensely in many ways from a variety of medical interventions you know I couldn't have been born say in the 1970s for example I've also been in in and out of physical therapy for decades and it's relentlessly ableist physical therapy and you know or can be but it's also helpful at various points so I think it really just depends on your perspective and the community involved and it really is a conversation that is very that just needs to unfold naturally which really takes into account what individuals and disabilities disabled people are actually saying and then allow that dialogue to really continue um and really having forums like this and I think again this is I think Mike we're really focusing on the main worry or the main sort of construct I have and thinking about this conference is how to think about this very complex issue because I don't think there's an easy answer. Did you have a question you wanted to ask too Chrissie? I sort of unfortunately that was actually my question which I then turned into my answer but I should also say you know what do we do um and I think this is a general question so Julie Watts-Belzer has basically said that you know disability is is kind of one of the worst ways to describe disability because it's so diverse and it's so complicated I mean so again it's do we have um do we have any how can we improve our language how can we improve our engagement I think this is I think this is a general question that I could then take back to the audience and see where this this this lets us. Can you maybe say a little go ahead? I was you know one thought that comes to me Chrissie about the the helpful point you've made is that yeah how mindful that we need to be of this is to my point the heterogeneity that's out there and also you know the fact that when you move from different you know communities you can get very different perspectives on this topic and also you know perhaps very different heated debates within those communities about that topic right so you know I I'm I'm guessing you know in the community of families that have dealt with Tay sacks there's not a huge you know sort of debate about medicalizing Tay sacks but you switch to something like the death community right or the neurodiverse community right I mean that was one of the point of Professor Blankmeyer Berg's presentation that you know when we're talking about medicalism it's not just an idea like there's the threat of genocide right there's sort of like that this is an existential threat for this for this community or at least for some people in that community as they see it and and so I think that's where it kind of gets really tough when I absolutely agree sort of more dialogue and conversation is important but in some of these communities these conversations have been playing out for a long time and and they're not sort of resolved in any you know serious sense and so it's like how do we kind of embrace the the kind of individual perspectives but also you know whether it's advanced NIH policy or federal policy or university policy that that you know is does a job good job of capturing that that diversity right and bioethics as well there's a there's a very good comment in the actually now that there's lots of comments in the in the question and answer but I just wanted to read the comment by Carolyn Chapman and get the discussion from the from everyone assembled here so they say there has been some discussion about different types of disability e.g. acquired versus congenital or or from birth visible and not requiring more support support versus less listening to these conversations I'm also curious about disabilities that are viewed as someone as part of someone's identity versus something that is separate and of course this is a spectrum two and not a fine line and hold on I just lost the place okay and not a fine line but this issue of how much someone views a particular disability as part of or less so their identity seems to bear on ethical issues including genetic research yes interested to hear thoughts on how this might impact on ethics for genetics since this is an NHG or icon good question Maya go ahead yeah thanks so I think that's a great question I think it comes if I'm thinking about it I think it has a few levels for me one is in terms of the research and we're conducting and community engagement I think that's an opportunity to learn about communities preferences and subgroups within the community and the diversity and heterogeneity within the community I do think that in all the genomic studies that we're doing I think one important aspect of that of the identity issue to me is that we have to think how we ensure that as we move into more data sharing both of genetic information and other research material one of the question is how do we ensure that we do not undermine that identity for those who participate in research and what I mean by that is that you know people who identify as members of the deaf community sometimes of the blind community nor diverse communities they think about their medical condition as part of who they are and it's and the language that's being used constructs the narratives in which they want to be identified and thought of they're reframing the medical discourse in ways that reflect and resonates with their identities I think we have to think about from an ethical perspective how can we ensure that when the data are being used by then secondary researchers for example they're not being reduced again into those with hearing loss or with vision loss or with whatever other terms we want to say that do not reflect the identity and empowerment of those individuals so for me this is one of the ethical questions that we have to think about when we move into that conversation about identity genetics disability yeah thanks that's a really really excellent answer really important point too I've been struggling with how to ask this question it's something that I kind of do in my own way in my historical research but I'm wondering if you thought about any of you have thought about whether we're kind of grappled with the the idea that you know that disabled people can and should be more than the author of their own experience in other words that they should have a more empowered role in maybe forming research questions or engaging in collaborative types of research or you know other methodologies that might actually empower them more than than merely including them is that something that you've thought about I think that asks us to think about what inclusive justice requires and the role of context so it's not just this is a point that I think applies more generally to several aspects of that conversation it's not just about what's going on with a particular person but what's going on with respect to the possibilities and limits and need for change in the existing world and you can get information like I suspect Audrey Aubrey I'm sorry is particularly knowledgeable about that one yeah I think being a person with a disability and as a student I always wanted to be able to advocate for other people with disability and as I graduated I grew and began my college career I realized that I had no idea of how I could become an advocate and I'm so grateful that I'm able to be a part of the guru program because like we were talking about the guru program has given me no opportunity to be involved in that I began to advocate for people with disability thanks Aubrey that was a really a good answer yeah exactly Chris did you have a follow-up I had a point and Maya you and I have talked about this so and this was a question that you wanted me to bring up and I haven't brought it up yet and I want to bring it up now I am a little concerned that that Maya let me back up a little bit so Maya you talked about quite a bit how studies with disabled people have to include in a non-reductive way both disabled individuals as investigators and disabled individuals as part of study code and I think there's a real danger or my worry is is that there's too much of an emphasis or not enough of an emphasis on disabled investigators really working in the science and lots of discussion about cohorts and I think this is an open question and it's just something that we should consider that there really needs to be disabled individuals really working in the science really working in the ethics and this has always occurred and this will always happen but to just you know keep this in mind where it's it's not simply you know kind of research subjects it has to be also the other side of the equation where the disabled individuals are producing the knowledge because I think disabled individuals getting to a very interesting epistemic point have a different kind of knowledge you know than you know than other people in some respects in some ways and I think that's a perspective that's difficult to recover or difficult to extract or to narrate and it's also something where as a society we really need it with the caveat that I'm well aware that no one is typical and no one is no one is normal and that disabilities are everywhere is that does that make sense and Maya can you sort of comment on that a little bit or help me out in terms of my pretty expressive abroad characterizations thanks Grace no I I completely agree you know I have my own worries about recruitmentology that we're just trying to amplify the numbers bringing more data sets bringing more data sets providers but we're not actually engaging and letting them lead the questions that will be assessed and done with their data so for me I think it's important we obviously need big data sets in order to do good research and I'm thinking about even precision medicine research which is kind of the more holistic approach to research right and with really a lot of promise but it has to come up come also with social capital which which means it has to come with lived experiences and with people with disabilities leading the studies in each step it's not just doing to have consultancy role that is you know that once in three months or once in six months or once a year you're sort of updating them but they actually have to be a part of the front writing process the each step of the implementation decisions about what will be done what will be studied how it will be implemented and so forth I think we do need to have structural changes for that I think it's very difficult you know it's it's not just when you get to NIH or to medical schools you know it's really the whole process of schooling from day one where you think about separate education and who goes to where it starts early on right and so we have to make those systems that we have folks who can really be researchers throughout the process and I think we have a responsibility to make sure that diversity in the same way that we have a responsibility to ensure inclusion and diversity of people with diverse backgrounds yeah and I so I just wanted to mention that the the history genomic program has a has a brilliant postdoc Nikola Sijun who also just directly messaged me saying participatory research also breaks down that distinction between cohort and researcher thanks Nikola I also wanted to just briefly go to actually Mike this is also your panel I'm taking over a little bit but it's okay go to Jim Tabery you can take over it's your organization sorry actually actually Anne we haven't heard Anne for a while so and maybe let go I'll wait for she's done first and I just wanted to say before Anne speaks I wanted to make a really quick comment I thought Maya made a really excellent point I also wanted to I think it speaks to at least the way I heard you know an earlier comment about universal design and and and individual accommodation and I think you know it actually speaks to the idea that we need both we need to make curricula and spaces accessible to everyone but we also need to provide people with the supports that they need to succeed I mean you know the reality is that you know folks usually don't continue on you know post-secondary and that sort of thing and so I think having those supports in place as well as thinking about designing more universally is really important Anne. I just wanted to add to Maya's point about thinking about the subjects that I have an interest in who are are largely families with intellectual disability that there are some exceptions but most people who have the full mutation in Fragile X will not be able to conduct research except possibly as subjects and even then maybe maybe not they many don't have capacity to consent but I think that's all the more reason that it's imperative for them to build community so that families can know one another's histories and stories and begin to form a coalition to advocate on behalf of their kids and their adult kids and one of the things that I found extremely interesting when I was researching the history of intellectual disability was how significant it was in the study of intellectual disability for major academic medical centers to start forming in the 1960s because prior to that intellectually disabled folks were warehoused in institutions and people who took care of them were similarly warehoused they they worked somewhere in the middle of nowhere and never saw other clinicians who dealt with the same types of conditions and it was the creation of major academic medical centers at places whose names were all familiar with that allowed people who study intellectual disability to begin to come together to begin to identify common features of different syndromes and so on so I I do think that that part of enabling not quite sure how to put this but but part of enabling the disability community whatever that exactly means to to excel is putting people together uh allow having circumstances where minds can run across similar minds yeah yeah and you're that's a really good point and your colleagues at NYU Raina Rapp and Fay Ginsburg have written quite about quite a bit about that their anthropologists and they talk about this kind of shared community and shared knowledge you know that disabled people can develop and and really benefit from James we're starting to run out of time so I think I'll just rather than reiterating a valuable point I'll step back and let the conversation keep moving um well did you want to Chris did you want to jump in well I was going to say I think there's a really important point from the audience that I'd like to to read maybe well let's see how much I can get through and and so so Kathy Kopka I hope apologies if I'm not pronouncing that correctly notes to us the following uh to my mind disability disabilities and quotes is situational I have multiple medical diagnoses some of these diagnoses are things I hope medical science can find ways to relieve the associated challenges i.e. fatigue and pain without creating new challenges but some of my challenges are created by um environments such as mobility challenges um this presents a problem only in environments with stairs that I traverse and yeah it's so um my identity is likewise situational she she then goes on when I'm in an ableist environment with people who don't see their own ableist attitudes identify as a person with disability but when and with others who who are uh with I'm with others labeled as disabled I don't need to identify as as disabled said my other identities come to the fore yeah and this is absolutely you know one of the themes that we've been getting at in the course of the discussion and one of the things of the conference you know I think Mike you had a really nice phrase or series of phrases in your introductory remarks it basically said that one of the reasons you know to expand on it a little bit is one of the reasons that there's disability history is disability has a history so that the things that are now considered to be disabilities in earlier times were not and that things that used to be disabilities uh are are now no longer disabilities and that's because of uh you know I don't know if if like you know neurostemia for example there was this this obsession over neurostemia so I think it really is a disability is something which is historically can this is paraphrasing you Mike historically contingent and it very much is situational and I think it also is agent right so you you always have to think about agency and I think so disability is an agency which has uh as Rosemary would say rights and obligations and it also is something that one can employ and not employ um based on the situation I think that's very important to remember so I just wanted to acknowledge that very good comment and hopefully I didn't read out too much but yeah absolutely yeah I think that's really important and I think that the creation of disability categories um you know and diagnostic labels is certainly contingent and changes over time and and I think what the the commenter was also saying is that it's disability is situational and relational in the ways in which it's experienced oops I muted myself it's situational and relational in the ways that it's experienced and so you know some situations some environments could be more disabling than others but I think you know you know listening to the presenters today and and thinking about the broader context of this symposium I think balancing that situationality and relationality with kind of embodied realities is really important um you know that and then also of course structural limitations as well and trying to be mindful you know sort of contain and hold all of those things um together in our minds as we as we do our work is is really important and I think can ultimately be really challenging sometimes too. I think it's also worth pointing out too you know as a historian of eugenics disability was one of the the description of disability was one of the the the prime movers for essentially genocide and and segregation of of large groups of individuals and I think that there's a lot to be said about this about these identities which are ascriptional aspirational and situational but for for many communities these are these are real realities that lead to unbelievable harms and I think this goes Jim to your point as well where I think we have to be mindful that there isn't a a process by which we can get to a better understanding of disability through dialogue but as Jim as many as you many people on this call have or on this and in this panel have really done research into eugenics and the history of eugenics and the history of scientific racism and I think you know that's also something that we also particularly in the context of these emerging frontiers of of bioethics and these new genetic techniques we really really have to be mindful of and because history is one of those things that is very often forgotten and is a real danger of that forgetting. I just want to add Chris if I may just about Kate that's Kathy's point which I think is really important you know situational experiences of identity and what do we have to what do we sort of emphasize at any particular time or situation I think that is also universal in many ways right you don't have to you don't have to be a person with disability to have to shed different identities or aspects of who you are in particular settings and it's important just to mention it so it doesn't become another difference that separates people with disabilities from others I think we all have to be aware of where we are from the identity perspective and situational perspective and relational perspective and we change that every day so yeah Maya that's a really good point it's a very human experience and anything by Gatsky the Russian philosopher who actually kind of first talked about that was not thinking about disability when he was talking about situational or situationality yeah well I think we're out of time thank you very much for really fascinating presentations and a really really interesting and absorbing conversation yes absolutely yeah thank you thank you to the the speakers and I think this was a just a wonderful way to to round out just a I think a revolutionary gathering over the last two days so thank you and thank you guru panel participants we really have to figure out how to get all of you back again really to discuss these issues more because I think we've really just scratched the surface as as to say I mean this is going to be one of the first engagements in in disabilities and the in its richness and its you know complexity and its history and it's you know all of all of these emerging things that we've all been talking about so in any case I think there's some time for some closing remarks very briefly at the end of the two very full days and at the end of the of an afternoon that is before a three-day weekend so Mike I don't know if if you wanted to say anything to to end or and so go ahead please well I think that that you know a lot a lot of it was said in that last panel we were really kind of touching on broader themes addressed throughout the two-day conference I just want to reiterate the importance of this type of conference and my excitement about the you know the possibilities for the future and the possibility of you know published work coming out of this these talks over these two days because I think that you know as you've said we just kind of began the conversation on a lot of these issues and while I while the presentations were you know really enlightening and revealing I think that there's there's still so much more to be said yeah exactly so this is where I have to say or I really need to say so thank you to to Mike for co-organizing and co-conceiving and thinking about this this conference and this symposium with me for I think a year or more I absolutely have to thank from the bottom of my heart the members of the office of communications and Sarah Bates in particular and also our our graphics team our video team our social media all of the individuals at the NHGRI across all the divisions who have supported me and my efforts to to bring these conversations as enlightening as in many ways as difficult as they have been over the last year obviously our interpreters and our captioners have been doing a fantastic job and our AV staff have are really have really been incredible and it's really been a conference that I think will stand for posterity and will be posted on to YouTube so if you missed various points you can log back on and then view the videos there and we will send out information so I think in general you know I would just say that we've addressed many many questions around disability genetics and genomics and not provided many answers and certainly not simple ones I think that's the point I think this is going to be the first in a series of engaging conversations around very difficult topics I think these are necessary and needed conversations and I think these conversations will will evolve as we as we let you know invite more people let more people in and and sort of engage more networks and hear more voices and I think that's the most important part and I really hope that we've sort of struck the balance between an acknowledgement of the harms of eugenics scientific racism ableism but also the fact that you know in many ways you know precision medicine genetics and genomics have really helped communities in very tangible ways and I think you know to have benefited many individuals and many groups in in in many facets but I think you know genomic science you know medicine precision medicine will only be revolutionary when they get acknowledges past harms and I think we're very much doing that I think we're developing the architecture to and the vocabulary to really have nuanced conversations about past and present and you know going beyond you know reductive models and reductive kind of understandings we will absolutely have follow-up events I want to acknowledge all of our questioners in the audience I think the questions have been very thought-provoking very detailed we have not gotten to a fraction of them but we will take all of them and we will very much keep them in mind for future events and very much look to this space the NHGRI is putting together further resources and we will have further gatherings precisely on this and related topics so thank you so much again for staying with us these two days and have a good weekend everyone and we'll see you soon thanks so much bye bye