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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.
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 … studies. In summary, the scientists of the Cancer Genetics and Comparative Genomics Branch work in a highly …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… - is moving from research laboratories into general medical practice. Now, two leading scientists have sketched … M.D., M.P.H., of Brigham and Women's Hospital and Harvard Medical School, Boston, note in the June 19, 2014, issue of … Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about 10,000 such tests will …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between the American Society of Human Genetics (ASHG) and the National Human Genome Research … scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to …
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
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 …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… July 2024 DNA Science and Human Genetics Lawrence Brody, Ph.D. National Human Genome … The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between the American Society of Human Genetics (ASHG) and the National Human Genome Research …
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 American Society of Human Genetics (ASHG) , a professional organization of over 8,000 human genetics and genomics specialists, has established a new …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Immunodeficiency (SCID) Immune Deficiency Foundation Genetics Home Reference: X-Linked Severe Combined …
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.
… for the position of Program Director (PD) of Laboratory Genetics and Genomics (LGG) Fellowship & Director of Genetics Education (DGE). This key leadership position … provides a unique opportunity to shape the future of medical genetics education within the innovative NIH Clinical …