Search Results
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Additional Resources for Cystic Fibrosis Information Genetics Home Reference Cystic Fibrosis Foundation Cystic … Fibrosis: Your Genes, Your Health What is Cystic Fibrosis? Genetics and Rare Diseases Information Center Finding …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to identify … collaborative agreements with universities, academic medical centers, and clinics.  Develops and maintains banks …  Provides public education seminars and Continuing Medical Education lectures to support groups, clinicians, …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
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.
… vs behavioral traits)?  If there is a tight coupling of genetics and environment and potentially GxE effects, how … of Mendelian inheritance were early foci of human genetics that naturally emphasized family-based studies and …  Abdellaoui, Abdel Assistant Professor, Complex Trait Genetics Universiteit van Amsterdam  Adkins-Jackson, Paris …
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.
… opportunities for integrating genomics into routine medical practice in a fashion that prevents disease and … the field of genomics.  …  The American Society of Human Genetics (ASHG) , a professional organization of over 8,000 human genetics and genomics specialists, has established a new …
Event
Workshop highlighting accomplishments of eMERGE network and and identifying gaps, challenges and future opportunities in genomic medicine research.
… EHR and Genomics on October 30th, 2017.  The Electronic Medical Records and Genomics (eMERGE) network conducts … data from large biorepositories linked to electronic medical records. The workshop highlighted accomplishments of … phenotyping for genomic research, and Electronic Medical Records integration of genomic results and automated …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… 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.
… 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 … protections against employment discrimination based on genetics. More on that later!  1996 Sen. Olympia Snowe …
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.
… will provide scientific expertise in epidemiology, genetics, and related areas to undertake, collaborate, and … decisions. Analyze, interpret, and evaluate data from a medical and scientific viewpoint in an accurate and timely … with major study in an academic field related to the medical field, health sciences or allied sciences appropriate …
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 … sequence for the human genome. This effort benefitted both medical research and the practice of medicine worldwide, as … have researchers and healthcare professionals trained in Medical Genetics and Genomic Medicine, available to address …