 My name is Daphne Bell and I'm a basic researcher. I'm Charles Nohoma Rotimi and I'm a basic scientist. I'm Julie Segre and I am both a basic and a clinical researcher. My name is Ed Ramos. I am a research fellow in basic sciences. My research is to understand the genetic alterations that cause endometrial cancer. This is a cancer that forms in the womb or the uterus and it kills over 73,000 women worldwide every year. The research that we do here at our center here called Center for Research on Genomics and Global Health is really directed at how we can bring cultural factors and also genetic factors together to help understand why diseases vary as you go across human populations and pay particular attention to populations of the African diaspora. My research examines all of the bacteria that live on your skin and how the diversity of bacteria and the change over time contributes to both health and disease. We use high throughput DNA sequencing as a very powerful microscope to identify the bacteria based on their DNA sequence to complement what we can grow on petri dishes or in liquid culture. I'm part of a research team that focuses on human genetic variation very generally and to really capture the true genetic diversity that you see in present man we focus on studying multiple populations so European ancestry, African ancestry and we do this in a variety of different contexts. My research approach to studying endometrial cancer is to compare the DNA code in the tumor genome from an individual patient with the DNA code of the normal genome from that same patient and I compare it over a series of about 100 patients and look for the common mistakes in the tumors. Right now we are now able to query the whole genome and we are able to query that at reasonable cost and that is really giving us fundamental knowledge, fundamental insight into diseases. For example, we are finding that genes that we thought only related to diabetes to also be related to cancer for example. We have a clinical trial for kids who have bad eczema which is an itchy skin disease. It often affects kids in the bend of their elbow, behind their knees but it can happen, it can be dry skin on your hands. What we are trying to explore is the connection between the shifts in the material diversity and the disease progression. So the context of our research is in diseases and in drug response as well. So human genetic variation with respect to disease we focus on type 2 diabetes, hypertension and obesity and other related traits. Cancer research has really been turned on its head because now we can look for faulty genes that are present in tumor cells. We can characterize those faulty genes and understand how the protein is misshapen or behaves in a different way than the normal protein and we can start to develop smart drugs that really target the faulty protein and leave the normal protein relatively untouched. What we envision is that we will be able to from these studies where we look at the longitudinal data we will be able to determine some sort of assay that looks at, a fast assay that looks at the microbial diversity and says something like when you test your glucose levels you would test your microbial diversity and you would test your levels of staff versus pseudomonas versus propionobacterium and if you started to get out of balance then you could use some sort of probiotic or antibiotic therapy to reset a healthy balance of skin bacteria. So the genome-wide association studies if you're successful you get what we call hits in terms of variants that are associated with the trait that you're looking at. So for my specific research if I'm looking at type 2 diabetes and I have people that have the disease and I compare the people that don't and something shakes out in terms of the genetic variant that associates with type 2 diabetes. I now can look at what gene is that variant in. Our hope is that this knowledge will be able to be translated into more effective tests within the hospital setting that would allow us to match specific patients to specific drugs in other words personalized medicine for cancer. For me it's really an exciting time to be a scientist who wants to understand the genetics of diseases. My name is William A. Gall and I'm an MD-PhD and a pediatrician and a clinical and biochemical geneticist. My name is Terry Minolio. I'm directly office of population genomics at the Genome Institute. I'm primarily a clinical researcher. I'm Leslie B. Sacker and I'm a clinical medical geneticist working in the genetic disease research branch here at NHGRI. My name is Dan Cassner and I'm the scientific director of the intramural research program of the NHGRI. I see patients with inborn errors of metabolism and do clinical research and some basic research into the particular disorders that our patients have. At present what we're trying to do is apply genomic technology to population studies. So the main focus is to take existing population studies which are usually large-scale, large numbers of people who have been followed for a long period of time initially perhaps without disease but then developing disease later and try to apply genomic technologies to determine why they develop those diseases. My research program is focused on understanding relationship between the genotype and the phenotype or the medical or clinical manifestations in patients and humans in general. And so we go from the clinic to the laboratory and understand how the genome makes us what we are and what we aren't, makes us healthy or makes us ill. I am in a way both a clinician, investigator and a basic researcher. My interests are basically in understanding the mechanisms of human disorders of inflammation and understanding how these diseases come about and what we can do to intervene to help patients who have them. Having the human genome project and knowing the sequence of all these genes now allows us a shortcut to that. It allows us to find the gene by different mechanisms and because the function of many of those genes is known we then know immediately what to investigate in terms of biochemistry and cell biology. The initial genome-wide association studies really were a big surprise to everyone in that they started finding things. So people who had been in this field far longer than I had been struggling for 20 years to find a hypertension gene or whatever and really had come up with very, very little were thrilled that suddenly things were coming up positively. So the ClinSeq project is rather ambitious and some may say bold effort to actually take the genome take genomics, take a genome center and put it right in the center of a clinical research program and directly apply high throughput genomics to patient care research. So there the technique was basically to go out and find a large cohort of families with the disease with multiple members of the family with the disease and to try to compare the inheritance of the disease in the families with the inheritance of DNA markers of known chromosomal location. I would say that the Human Genome Project has helped enormous numbers of individuals find causes of diseases, make diagnoses and now we're really approaching the therapeutics the therapeutical interventions in that. We certainly can in looking at the entire genome identify people who are at extraordinarily high risk. So you may have 20 alleles that put you at risk for type 2 diabetes. Most people have 5 or 8 or 10 of them but what if you have all 20? You're at much, much higher risk than if you don't have any. So I can bring in to the clinical center a family with a single family with a previously undescribed disorder and within a few weeks understand what the molecular alteration is that's causing that disorder. And that's something that was utterly incomprehensible 15 years ago. Once one lands in a particular chromosomal region you can simply go to the databases and look up what genes are there and even have an idea of what their functions are so that you can very easily cut to the chase and be able to get to the gene that is likely to be the culprit gene for your particular disease. I think knowing the Human Genome Project and the sequences of genes and where they are has already had a great impact on medical care. In two years we'll have, I suspect, far more variants that are related to either drug metabolism or symptoms or signs or prognosis. We're already practicing personalized medicine simply by taking a patient as we have done and sequencing their genome and finding in their genome a liability to a trait that has not yet manifested in that person. We can sit with that person, explain what that trait is, explain what the symptoms are, and then they can be empowered to better manage their individual health care in the future as it arises.