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News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Jeannine Mjoseth … The National Institutes of Health (NIH) has awarded 16 four-year grants to academic … nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … ​ … Undiagnosed Diseases Program, rare diseases, genetic disorder … UDN expands the footprint of the network …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against … to participate in the research needed for the development of new tests, therapies, and cures. This page provides an … from discriminating against patients with genetic diseases by refusing coverage because of 'pre-existing …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… Contact the program at fellowships@ashg.org or submit our Fellowship … and public engagement.     At the 2019 American Society of Human Genetics Annual Meeting, former fellow Dyanna … on the fellows’ interests and career goals Duration of Fellowship:  2 years Start Date:  July 1, 2024 Location: …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… Jeannine Mjoseth … In the first study of its kind, researchers explored patients', … the success of clinical trials and implementation of new genetic curative therapies, into clinical treatment," said  …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
… … A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not … show symptoms of that disease (or features of that trait). The carrier has inherited the variant allele from one parent …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague. The … by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … in Mediterranean populations. For this, they performed genetic analysis on a large cohort of 2,313 Turkish …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… Steven Benowitz … The National Institutes of Health (NIH) recently awarded … teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support …
Jobs at NHGRI
NHGRI is seeking applications for the Director of Genetics Education (DGE) position for the Medical Genetics Training Programs, which plays a critical role in leading and overseeing all aspects of our ACGME-accredited programs.
… and encourages applications from women and minorities. … The Director of Genetics Education (DGE) for the NHGRI Medical Genetics … and consultations to enhance their understanding of genetic factors in various disease processes and empower them …
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
… Contact the fellowship program at fellowships@ashg.org or submit our … From guiding research agendas to informing the integration of genetics and genomics in clinical settings, sound … enhance and accelerate equitable access to the benefits of genomics research. These policies are better informed with …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… The Medical Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators … new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …