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Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … 11 that is affected). Chromosomes are packages of genetic characteristics. There are 22 pairs of chromosomes …
Event
The Ethical Legal and Social Implications (ELSI) Research Program is hosting a webinar to gather specific feedback on four potential goals for the field of ELSI research over the next decade.
Office of Genomic Data Science
NHGRI is committed to increase the availability of educational and research opportunities in computational genomics and data science (CGDS).
…   Expired RFA-HG-22-002 : Educational Hub for Enhancing Diversity in Computational Genomics and Data Science (U24 … 27, 2023 ) Webinar: Educational Hub for Enhancing Diversity in Computational Genomics and Data Science ( July … this Page … Program Staff … Related Content … Enhancing Diversity in Computational Genomics and Data Science … …
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.
… Wilson disease is a rare genetic condition that causes a person's body to store too … damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … disease. Copper content of the liver is also measured. Genetic testing is frequently used to help diagnose Wilson …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… gastric cancers. They also study the relationship between genetic variation and cancer progression and pursue the … primary focus of CGCGB investigators is to identify the genetic contribution to the processes of cancer … genomes. Specifically, the program: Focuses on finding genetic relationships between regions of the human genome and …
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.
… and dynamic processes in general that may mediate genetic effects on traits?   Advances in sequencing … or theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: … theory inform our understanding of how and why the genetic architecture of molecular level traits differ from …
News Release
NHGRI hosts a Reddit "Ask Me Anything" about using virtual reality to study a host of questions about the human genome.
… Reviews Genetics that lays out the challenges to achieving diversity in genomics research, the ways in which NHGRI has … not see engaging minority and lower-income populations in genetic research, within my own health system and others, … individual patient based on what we know of his/her unique genetic and behavioral characteristics, environmental …
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.
… plan also stresses the need to address issues related to diversity in genetics and genomics research. The … an informed public. Establishing how best to advance genetic and genomic literacy is a major challenge. No one … summary data. In addition, All of Us recently funded a genetic counseling resource to help participants understand …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… expansive new efforts for all of NIH to support equity, diversity, and inclusion in science, with the ultimate goal … in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to …
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.
… is seeking exceptional candidates for the position of Genetic Epidemiologist, Division of Genomic Medicine (DGM). … and facilitating multi-disciplinary research to identify genetic contributions to human health and disease and use … professionals; A commitment to the principles of diversity, equity, inclusion and access; and Project …