Search Results
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
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.
… Content … Decades after rare disease diagnosis, family and physician hail genomic breakthrough … In 1982, John Carey, …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… sequencing. Relying on his early training as a computer scientist, Phillippy’s work focuses on building and using … … Seeking future puzzles … Related Content … A computer scientist’s quest to complete a critical genomics puzzle … …
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… in 2011. Dr. Phillippy and Sergey Koren, Ph.D., senior GIS scientist, were early adopters of this technology, and …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… Robb Rowley, M.D. … Dr. Robb Rowley is an Internal Medicine Physician and is the Program Director for the National Human … Rowley, M.D. … Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human … genomic medicine … Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
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.
The Genomics Landscape
In the August 2018 edition of The Genomics Landscape, NHGRI Director Eric Green announces the recent launch of the NHGRI Genomic Innovator Award.