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News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… severe side effects. People with the disorder typically don’t live more than 10 years after their diagnosis. The …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… set such a good example," Cody Hanson said. "She said, 'We don't know what we have, but we're just going to deal with it …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… reproductive therapy is an option for carrier couples who don't want to risk giving birth to a child with Tay-Sachs. …
Profile
An interview with Meru Sadhu, an Earl Stadtman Investigator and head of the systems biology and genome engineering section within the NHGRI Intramural Research Program, where he talks about his research and why yeast have a special place in his heart.
… and June. It's a really common tree in this area, but I don’t think most people are aware of it! … Ganguly: Nothing …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… Dr. Manthiram said. “We hope that eventually children don’t have to experience such painful disruptions for years …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… to generate a complete human genome sequence in 2020. “We don’t yet know what we’ll find in the newly uncovered …
Staff
Dr. Edward Giniger is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.
… system. His laboratory also seeks to understand why axons don't make guidance mistakes, given the intricacy of the …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… flipping a coin heads or tails. We all have genes that don't work properly. In most cases the other copy of the gene …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… talk, he met his goal to inspire: UDN @UDNconnect We don’t know about the rest of you but we’re having a hard time …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… in genomic medicine will be fundamentally flawed if we don't know what the genomic information means," said Heidi …