Search Results
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 …
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 … understanding of the genetic cause of Mendelian conditions and to increase the solve rate for rare disease. The National …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… iron absorption. If correctly diagnosed, HH is easily and effectively treated, but if untreated, it can lead to … to diseases such as cirrhosis of the liver, liver cancer, diabetes, heart disease and joint disease. The gene that … Resources for Hereditary Hemochromatosis Information Genetics Home Reference: Hemochromatosis Hemochromatosis.org …
Jobs at NHGRI
NHGRI is seeking exceptional candidates for the position of Genetic Epidemiologist in the Division of Genomic Medicine (DGM). The division focuses on understanding how genomics contributes to human health and disease and how this knowledge can translate into improving the diagnosis, treatment, and prevention of disease.
… on understanding how genomics contributes to human health and disease and how this knowledge can translate into … will provide scientific expertise in epidemiology, genetics, and related areas to undertake, collaborate, and … etiology, natural history, prevention, and treatment of genetics of common, complex diseases. Application Deadline: …
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 – … Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – … Primary Care Electronic Medical Record Features Predicting Genetics Referrals P224 Using long-read sequencing for …
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 … Description … Qualifications … How to Apply … Cancer Genetics and Comparative Genomics - SMAD2 … Postdoctoral …
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 … Description … Qualifications … How to Apply … Cancer Genetics and Comparative Genomics - ALK2 … Postdoctoral …
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.
… has been cancelled. The International Summit in Human Genetics and Genomics began as a 5-year initiative (2016-2020) and has … systems, research efforts and technologies in human genetics and genomics. Increasing their access to these …
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 … - The Gene Doctors Videos American Society of Human Genetics - Rare Disease Diagnosis Through Sequencing & Bioinformatics Hands-On Activity NIH - Genetics Home Reference Resources for Healthcare Providers …