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News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… “Looking at the girl she was before and how she is now, I don’t see how she would be where she is now without the …
Research at NHGRI
CRGGH develops a comprehensive staff and training program that uses genomic approaches to study human health and to reduce/eliminate health disparities.
… that at the level of drug metabolising enzymes, genes don't align themselves in a consistent manner with social …
File
… there is a work product, how often is it spread and used? Don’t wait for the answer at the end. I do not have one, but … Ideas to Action Food for thought: Use personal contacts, don’t confine yourself to channels. Let your passion show. …
File
… gene are likely to have fewer platelets and platelets that don’t work as well, eczema, and have a higher risk of … bit more information that we ma\ y not have asked you yet. Don’t worry -- we try to make these calls as short as … through late June have been postponed. But what we don’t know is whether there are other things that a perso\ …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… with the disease. If we think about public health, I don't think we focus enough on all of the other people in the …
News Release
Scientists drafted the blueprint for how to build a common goldfish. Now they'll use it to find out what gives ornamental goldfish their nuanced features, gaining insight into human health.
… swim in Dr. Yoshihiro Omori's lab in Japan.  Humans don’t have gills, but Burgess says we still have some …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… There are hundreds of rare skeletal disorders, but we don’t have treatment for even 5% of these disorders. Even the …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… and know that our son is well worth the research. We don't know what the future has in store for Blake; what he …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… the human genome, but it's written in a language that we don't understand. ENCODE is a way to learn the logic and …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… the NIH, you can still participate in this study. If you don’t have a primary hematologist, we encourage you to … patients who progress to leukemia as compared to those who don’t, since it is believed that leukemia is developed from …