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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
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 prevents health insurance companies and employers from requesting that people take genetic tests, …
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? … Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – …
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, … Immunodeficiency (SCID) Immune Deficiency Foundation Genetics Home Reference: X-Linked Severe Combined …
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 …
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 …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… The International Summit in Human Genetics and Genomics is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, …
Jobs at NHGRI
NHGRI is seeking applicants for the position of Program Director (PD) of Laboratory Genetics and Genomics (LGG) Fellowship & Director of Genetics Education (DGE), which plays a critical role in leading and overseeing all aspects of our ACGME-accredited programs.
… SECURITY NUMBER (SSN) ON APPLICATION MATERIALS. DHHS and NIH are Equal Opportunity Employer and encourages applications from women and minorities. … … for the position of Program Director (PD) of Laboratory Genetics and Genomics (LGG) Fellowship & Director of Genetics …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … by the FDA . The ability to read the human genome quickly and cheaply has led to substantial advances in discovering … - The Gene Doctors Videos American Society of Human Genetics - Rare Disease Diagnosis Through Sequencing & …
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 …