 So thanks, Bill. And I'm going to be giving the next talk just to give everyone a brief overview of the UDN. We had a pre-meeting webinar which went over some of this information as well as some information on the Common Fund, as well as talking to folks about the Phase II planning process, the results of a request for information that we put out, as well as some of the goals for today's workshop. So as I just mentioned today, we're going to be talking a little bit about the undiagnosed diseases network, the Phase II continuation, the RFI and today's workshop. Just to start off with, the undiagnosed diseases network grew from the undiagnosed diseases program at the NIH Clinical Center. We now have seven clinical sites. They are located at Stanford, UCLA, Baylor College of Medicine, Vanderbilt, the NIH, Duke, and Harvard. We also have a coordinating center, which is at Harvard, two sequencing cores at Baylor College of Medicine and Hudson Alpha with a partnership with Illumina. We have a model organism screening center, which is at Baylor College of Medicine with the University of Oregon, a metabolomics core at Battelle Pacific Northwest Laboratories with Oregon Health and Sciences University, and a central biorepository, which is located at Vanderbilt University. And so these make up the 13 sites that are part of our new undiagnosed diseases network. We also have three main objectives for the undiagnosed diseases network. The first of these is to improve the level of diagnosis for these previously undiagnosed patients. The second is to really facilitate research into the etiology of these often ultra rare conditions. And then third, we want to really bring together the clinical and research communities in order to be able to better serve the undiagnosed community. This just gives you an idea of where we are as far as our funding at this point in time. We have now awarded all of the major sites that are going to be a part of the undiagnosed diseases network. We do have one last batch of R21s, which are yet to be awarded this summer. And it's likely that there will be a couple more supplements that are made for doing some gene function studies and other needs of the network. But there will be no additional sites awarded during this first phase of the undiagnosed diseases network. As mentioned already, there's been a big focus on data sharing and outreach in the undiagnosed diseases network. The manual of operations, which lays out all of the network-wide protocols for the UDN, is already available on the Coordinating Center's webpage. And you can find that here. This manual of operations is updated every time we have an in-person steering committee meeting, which right now is three times a year. So every couple of months, there will be a new version of this manual, which gets posted online. And the old versions are all archived there, so if you've looked at a previous version, you can see where the changes have been made. We're also really focused on making the data available. All of the data that's collected as part of the undiagnosed diseases network will be shared. Some of this data will be going into DBGAP. We're also going to be sharing data as part of Phenome Central. So all of the sites, as Bill alluded to earlier, are going to be collecting phenotypic data using a program called Phenotypes. This information can then be shared through Phenome Central, which allows for matching and for us to become a part of the matchmaker exchange, which is really set up so that a number of these different database nodes can share information about patients without you having to put your data into multiple different databases. So by having all of the data from the undiagnosed in Phenome Central, individuals that, for example, went to Gene Matcher would be able to tell if there was a match with the data that we have in Phenome Central. Just to give everyone a brief overview of the undiagnosed network-wide protocol, all applicants to the undiagnosed apply to a central online application process that's housed at the Coordinating Center's website, our undiagnosed gateway, we call it. And all of the applications come into this gateway and are then routed out to all of the clinical sites using an algorithm. For the most part, they are routed to the site that is geographically closest to them. And this is really due to the fact that when we initially established the UDN, one of the main factors behind expanding to a set of multiple different sites was trying to make it easier for the patients to be able to access a center that would be able to provide this undiagnosed evaluation. Once the applications have been referred to a site, they are reviewed by the clinical sites. This just gives you a breakdown of how many applications have been seen at the extramural six clinical sites versus the NIH UDP. The NIH UDP site has a higher quota for patients because they were already seeing approximately 150 patients per year. The clinical sites were ramping up from starting at 25 patients which were done as soft launch patients known to the sites and working up to seeing approximately 50 patients per year by the end of FY17. Once they do their in-house review, the patients that they would like to accept are brought to a case review committee meeting. This group meets every couple of weeks and is made up of clinicians from all of the clinical sites. They discuss the cases and cases are accepted into the network. The cases that are accepted sometimes then go for the clinical evaluation first. Other times some of the sites are doing the sequencing first. But this just gives you an idea of approximately how many clinical evaluations and sequences have been completed as of the end of February. The online gateway process for the undiagnosed diseases network just opened in the middle of September of 2015. So this is only a couple of months worth of data with the entire UDN 13 sites being available. So now I'd like to tell you a little bit about the phase two continuation process that we already heard about from Eric and Walter this morning. So the common fund right now we're starting the phase two continuation process for the undiagnosed diseases network. As part of this process we put out a request for information with the responses due back in December of 2015. I'm going to give you a little bit of a summary from what came back from that RFI. We're then having today's workshop to be able to get feedback from all of you about what potential needs gaps and opportunities are for phase two of the undiagnosed diseases network. And then a third component of this continuation for our proposal will be an environmental scan where we really look at what's out there in the community and how does the UDN uniquely fit in. And so today feedback is really the key. We want to have lots of discussion with everyone. And for today's workshop we've invited a number of different types of folks as we went around and did the introductions you likely heard that there are a number of UDN investigators in the room as well as outside experts. We've invited some of our external scientific advisors who are regular advisors to the undiagnosed diseases network and program staff are all here to be able to attend this discussion. What we talked about the main goal is to assess these needs gaps and opportunities. And throughout the day there are going to be a number of different roles that you'll hear about as we start going through a set of six questions. For each of these questions we're going to have one of the program staff act as a framer and set up what the question is and what we're planning to discuss. We'll then have a brief presentation from one of the UDN investigators, another brief presentation from one of our outside experts, and then we'll have a moderated discussion with a summary at the end. We're also going to have a panel session which by panel we mean we're going to have a bunch of people talk about topics that weren't necessarily covered by the six questions. These will be brief five minute presentations and we do have two slots left that we can fill within that panel time. So if something comes up during today's discussion that you think of but that doesn't seem to really fit with one of the six questions that have been outlined please just send me any more or catch me during one of the breaks and at lunch we'll send out assignments for those other two slots if there are some topics that have come up. Otherwise we will just use that time for further discussion. Now to go on to the results from the request for information. This is the request for information that we put out. The replies were due back on December 11th. And these are the questions that we had in the RFI. First we wanted to know what are any of the key issues that were really limiting undiagnosed diseases research and the clinical and laboratory evaluation of these undiagnosed patients. Second we wanted to hear about any new ideas or strategies for being able to improve upon the undiagnosed diseases network and undiagnosed diseases research. Third we wanted to ask folks about any ideas for criteria or metrics for looking at undiagnosed diseases research. How should we be evaluating this so that we know what success looks like. And then finally we had an open question for any other ideas that folks thought might be relevant to undiagnosed diseases research. And so this is just a brief summary of some of the responses that we received. And in the topic of new strategies we heard folks talking about wanting to address more non-genetic causes of undiagnosed diseases that we should think about what the course of action would be after sequencing. So what other novel methods could be applied to these undiagnosed patients and really making sure that the data that's produced gets released in a timely manner. We heard from a number of folks about increasing the role of patients and families as well as encouraging international collaboration that with these rare and ultra rare conditions that it was very important to think globally not just within the United States. There was also a call to evaluate the incorporation of other omics technologies and to consider systems biology approaches. And so hearing these different new strategies this really helped inform the six questions that we're planning on discussing today. And so this just gives you an idea of how each of these topics that came out of the RFI maps into the six questions that we plan on discussing. We also had a number of limitations that were pointed out for undiagnosed diseases research. One was the just limited availability of a healthcare provider to be able to have the time to really sit down with a patient to do a more thorough clinical evaluation. Another limitation that was pointed out was that there are often an insufficient number of specialists especially within genetics and that many of these specialists are not necessarily locally available to patients that they often have to go to a larger academic medical center in order to be able to seek specialist care. There was a call for more rapid diagnostic processes and that there were really some barriers for patients being able to access care. That there was potentially a lack of proper information and consistency. That it was sometimes difficult for these patients to be able to have the financial resources or to be able to get insurance coverage to be able to see specialists. There was also a lack of a systematic method and best practices for being able to validate candidate genes that they saw as being a real barrier to undiagnosed diseases research in general. And a real need to be able to bring together informatics into the discussion as well. And so these topics also map to the questions that we're looking to discuss today. In the criteria and metrics, there were a number of different parameters that were common amongst the responses. One of them was clinical parameters where there was a call to be able to measure the number of diagnoses that were made per various different parameters. So using sequencing or in a given period of time. As well as a real call to make sure that we were comparing like to like in that many of these patients that are undiagnosed have often been to many clinics. And because of that, we need to make sure that if we're looking at how long does it take to diagnose them and the resources involved, that we understand that these cases are very difficult to solve and not necessarily the standard case that would just be coming into a general practice unsolved initially. There was also a call for genomic evaluation metrics looking at the number of variants that were confirmed and new correlations with disease. Metrics that looked at the impact on the diagnostic odyssey. So what is the economic impact of a diagnosis as well as what is the average length of the diagnostic odyssey and how many different specialists did a patient need to visit in order to be able to make a diagnosis? And then finally, there was a call for some more qualitative information to be collected as well, such as survey information on patient reported outcomes. What different changes in care were made once a patient had a diagnosis? And if there were any coverage changes in the testing that was offered to patients as a result of the research that was being done as part of the Undiagnosed Diseases Network. There were also some other more general concerns that were brought up that seemed to be more concerns related to the practice of medicine in general or clinical research, such as that the proof of etiology requires more readily available functional studies when you have a new variant. That having a very diverse electronic medical record system in the United States makes it harder to share data. There were some concerns about being able to share particularly identifiable data and potentially people being concerned about HIPAA protections. And there was in general call to support there being phenotyping standards in order to be able to share the data more readily. And so finally, I would just like to point out some of the questions that we're going to be talking about today. We have selected six questions for general discussion during today's workshop based off of the responses to the RFI. The first of these topics will be the intensive clinical evaluation. Second, transitions of care, third, patients and family partnership. Fourth, training sharing and collaboration. Fifth, the virtuous cycle and integrating data. And then finally, we'll end with moving the UDN forward. And so this will be more of a summary type of discussion. After all of these six questions, we will then have some time for the panelist discussion. And then finally, we'll have a discussion about prioritizing the opportunities at the end of the day. And with that, I would like to thank all of the members of the Common Fund UDN Working Group, especially those who are highlighted in blue here, which are the program team that meets weekly that really were essential to being able to pull together this agenda today. And thank you all for coming. And with that, I'll take any questions that folks have. On your summary about the patient applications, the online applications, how does that number since last fall compare with how many you would have applied to NIH intramural UDP historically? So we're pretty comparable to what the previous application rate was. Bill, do you want to comment any more on that? We were seeing, we were getting applications of about, so we accepted 150, about 600 a year before. And now we're getting more applications than that because we have twice as many spots to fill in terms of acceptances. Instead of 150, we're supposed to fill 300 this year. So, and we're accepting, I think, at a slightly higher rate, partly because the new clinical sites are taking some of their own patients. That is not from the broader national community. But we're still, let's say, we're online on target with respect to the number of acceptances, which is essentially 150 at the NIH in a year and 25 of each of the other six sites. So I would say it's comp, we're getting a few more applications than we did before. But I think the year, you know, underneath your question is one of, you know, sustainability in terms of applicants now because, essentially, this program is destined to triple the number of patients seen around the country. Can we see triple as many really good patients as we did in every previous year in the UDP? I think that in a way that remains to be seen, but we may need to do some advertising for that. Okay, yes. So along the same lines, there are patients that you chose not to see, undoubtedly, that maybe could have been seen and would have benefited. Are you seeing people reapply? The answer is yes, we're seeing people reapply. But let's say when I see some of these cases, I'm pretty satisfied with our previous rejections or not acceptances, as they say. Thank you. So I haven't felt really terrible about most of the cases. I'd say there's only a very small group that are questionable, like maybe 5% or so. Yes, ma'am. Is there a standardized approach to the acceptance? I mean, is there a protocol or some kind of guidance that the different sites are using? Do you know about the variability in that acceptance? Well, every other Thursday, every patient that's desired to be accepted by a clinical site engages in a conference call, at which there's a committee that listens to those cases and they're presented for three minutes or some such. So there is a little bit of purview over that. And the cases, in my opinion, have been spectacular so far in terms of acceptance. But who knows, that might change. And the answer is no, there's nothing that's hard and fast or rules, but there's some general principles, things like have to have objective findings. It helps if there's a couple of siblings involved to family members and things of that nature help us. Any other questions? Yes, Eric. Yeah, actually I was wondering if the recruitment at the UDP and maybe if we have enough statistics for the UDN reflects the sort of general ethnic composition of the United States. And I'm curious because I've noticed at our site it's the patients that come locally that where are patients that do reflect it. But those that come from the gateway, they're more likely to be Caucasian and et cetera and not very reflective of the general Ellie County at least population. This program has never reflected the composition of the United States in terms of socioeconomic or ethnic groups. We see some minorities, but I must say that in order to be eligible for a program like this, one has to have a significant workup at a tertiary medical care center. And that is not provided in our country to poor people. And the UDN has taken some steps to try and make this easier for patients, but we do have to know that they are out there first. For example, we do have a partnership with Nord where we have a patient assistance fund which can help pay for some testing for patients that we think would be good candidates for the undiagnosed diseases network, but that have been unable to get that type of testing at a tertiary care center previously because of health insurance type of concerns, but it is a concern going forward. We also have translated all of the consent forms into Spanish in order to be able to try and make it easier recruiting within Hispanic populations within the United States as well. Okay, so we're pretty much at times, Cindy, do you want to make a quick point? Okay, then I would like to introduce Brendan Lee who is the PI of the Baylor College of Medicine Clinical Site and he will be speaking to us today about some early patient experiences as part of the Undiagnosed Diseases Network. Thanks, Brendan. Thank you.