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News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
File
… for Data Science Document 5 Philip Bourne, Ph.D. 21 st Century Cures Act  $4.8 billion for NIH innovation projects  Data sharing …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
File
… the implications of the Protecting Access to Medicare Act for genetic testing laboratories. It is clear that in … Presentations and Diagnosis of Metabolic Disease in the 21st Century. The presentations explored follow-up sequence …
Archive
… NISC: Tracing the Sequence of Events Leading to 21st Century Genomics … Archive …
Staff
Dr. ​Eric D. Green is the Director of the National Human Genome Research Institute at the National Institutes of Health.
… Genomics education for health care professionals in the 21st century. JAMA , 306(9):989-90. 2011. [ PubMed ] Manolio TA …
The Genomics Landscape
In the August 4, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the establishment of the Global Biodata Coalition (GBC), which aims to move towards more internationally coordinated, sustainable, and streamlined mechanisms that support the biodata ecosystem.
… significance of his work was not recognized until the 20th century, it paved the way for future research in genetics, …
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.
… no new diagnosis were made for around the next quarter century. When the first patient came to our clinic, we found …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… Advances in the field of genomics over the past quarter-century have led to substantial reductions in the cost of …