Search Results
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… Session 1 – Cells, Tissues, and Organs As we continue to catalog cell types and cell states with ever increasing resolution and … and dynamic processes in general that may mediate genetic effects on traits?  Advances in sequencing …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They announced their … and determine whether they had Noonan syndrome, a common genetic disease. Image Credit: Darryl Leja, NHGRI. The …
News Release
African scientists and collaborators gathered in Pointe aux Piments in Mauritius for the 9th Human Health and Heredity in Africa Consortium Meeting.
… Amy Bentley … In October, African scientists and collaborators gathered in Pointe aux Piments in Mauritius for the 9th Human Health and Heredity in Africa ( H3Africa ) Consortium Meeting. … … Her Excellency emphasized the great need for communication and understanding between genomics academic community, the …
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 … an informed public. Establishing how best to advance genetic and genomic literacy is a major challenge. No one …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Severe Combined Immunodeficiency is a severe, genetic condition of the immune system. … Severe Combined … (SCID) may be best known from news stories and a movie in the 1980s about David, the Boy in the Bubble, … severe combined immunodeficiency (XSCID) is caused by mutations in a gene on the X chromosome called IL2RG . This …
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.
… of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome … Our research entails the functional annotation of somatic mutations in candidate driver genes previously identified by … applicant will apply detailed molecular, biochemical and cellular approaches to functionally evaluate somatic …
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.
… of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome … Our research entails the functional annotation of somatic mutations in candidate driver genes previously identified by … applicant will apply detailed molecular, biochemical, and cellular approaches to functionally evaluate somatic …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The disease, 22q11.2 …
Policy Issues
The GINA is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… The Genetic Information Nondiscrimination Act, commonly known as … U.S. Congress in the 1990s at a time when genetic testing and genetics research was taking off at breakneck speed. GINA prevents health insurance companies and employers from requesting that people take genetic tests, …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… Committee … Contacts … Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are commonly used methods … causal variants underlying Mendelian disease. Although WES and WGS have proven to be transformational approaches, much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the …