Search Results
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… (SCID) may be best known from news stories and a movie in the 1980s about David, the Boy in the Bubble, … to life-threatening infections by viruses, bacteria and fungi. Because David's brother had died of the disease, … him with the capacity to fight infections on his own and thus free him from the bubble. Although a rare disease, …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… of Ibadan in Nigeria. After a residency in pediatrics and genetics, he became a faculty member of the College of … complex disorders of childhood. He has published widely in genetics and genetic epidemiology. He was the first author of … genetic epidemiology of cardiometabolic disorders and the genetics of complex disease in childhood. Cardiometabolic …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… Mullis, inventor of the polymerase chain reaction (PCR) and Nobel Prize winner, passed away last month. The … medical practice in a fashion that prevents disease and improves health. Tune into GenomeTV starting on September … planning events, please sign up for email updates and monitor the ‘Genomics2020’ calendar . …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… Day 1 - Tuesday, April 16th, 2024 8:30 AM – Arrival and registration 9:00 AM – Welcome and Overview of Workshop Goals Lisa Chadwick, NHGRI 9:10 AM – … of Pennsylvania 12:00 PM - Lunch 1:00 PM – Session 3: Genetics, it’s Complicated Moderator: Jennifer Troyer, NHGRI …
Policy Issues
The GINA is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… U.S. Congress in the 1990s at a time when genetic testing and genetics research was taking off at breakneck speed. GINA … diagnose a disease, or they might refuse to participate in genetics research. H.R. 2748 would prohibit insurance …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Hutchinson, who first described the disease in 1886, and Dr. Hastings Gilford who did the same in 1904. As … normal. However, within a year, their growth rate slows and they soon are much shorter and weigh much less than … treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed …
Event
The NHGRI Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network that will explore the changing landscape of genetics from a largely descriptive field and emerging creative fields.
… For questions and comments, please contact Beth Tuck at … The NHGRI Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network (UGEN) for the 5th Annual Virtual Workshop titled "Genetics Reimagined: Preparing Students to Explore the …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome … applicant will apply detailed molecular, biochemical and cellular approaches to functionally evaluate somatic … to discriminate driver mutations from passenger mutations and to assess the potential druggability of driver mutations. …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome … applicant will apply detailed molecular, biochemical, and cellular approaches to functionally evaluate somatic … copy number analysis, flow cytometry, cytogenetics, and a transgenic mouse core, offers the trainee wide latitude …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Bianchi, M.D., NHGRI, Panelist 2024 ACMG Foundation Awards and Presidential Plenary Session: Inquiry and Innovation – How Far Have We Come and How Far Can We Go? March 16, 2024, 10:15–12:15 p.m. … Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – …