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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.
… treatment for even 5% of these disorders. Even the more common disorders are just starting to have proposed …
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Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… Complex traits such as height and susceptibility to common diseases like diabetes and heart disease usually stem … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and …
Event
Joint workshop featuring overviews of Roadmap Epigenomics and ENCODE resources that are freely available for use by the research community.
… Contact … The Encyclopedia of DNA Elements (ENCODE) and the Common Fund-supported Roadmap Epigenomics Mapping Centers … available for use by the research community, examples of common use cases, and interactive tutorials. Attendees gained …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… been described or are unrecognized forms of more common diseases. … The new system streamlines the application … support and joint leadership for the network via the NIH Common Fund. "The UDN Gateway will provide patients and their … of Genomic Medicine and co-coordinator for the NIH Common Fund's Undiagnosed Diseases Network. "Based upon the …
The Genomics Landscape
In the January 2019 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green honors NIAMS Director, Stephen Katz, M.D., Ph.D.
… Allowed)    Funding News NIH Implementation of the Final Rule on the Federal Policy for the Protection of Human Subjects (Common Rule) Additional Kids First Dates for Precision Modeling of …
News Release
On March 16, Rep. Louise M. Slaughter (D-N.Y.), lead author of the Genetic Information Nondiscrimination Act of 2008 (GINA), passed away at the age of 88.
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… gaps, however, a negative result doesn't necessarily rule out a genetic cause for the disease. Most of the time, … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and …
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
Fact Sheet
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News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… in DNA sequencing have led to a greater understanding of common and rare diseases. At the same time, he noted, the use …