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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… at Dartmouth. He completed medical training in pediatrics and clinical genetics through a joint Children’s … Director, he led a team of over 400 molecular geneticists, genetic counselors, and laboratory and research staff. …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … are the DNA instructions you inherit from your mother and your father. … Genetic tests may be used to identify … for blood relatives of the person who had testing. … Diagnostic testing is used to precisely identify the disease …
FAQ
Frequently asked questions from the November 2, 2022 webinar that provided an overview of the Funding Opportunity Announcement (FOA) for the AnVIL Clinical Resource (ACR)Â RFA-HG-22-021.
… of the ACR to provide functionality to return results to clinical research subjects?  Yes, the purpose of the ACR is to provide genomic-based clinical resources within the AnVIL platform to support … team?  Not necessarily. You can submit your proposal and work with AnVIL team to make sure your resources can be …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to … from generation to generation due to chance events. … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary findings explained, eligible protocols, and services offered … What should I consider before … Secondary Genomics Findings Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural … The SGFS will coordinate confirmatory samples and provide genetic counseling and results disclosure to participants …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. Inborn errors of … "CPS1 deficiency". A list of broad categories of IEM and some examples are listed below. IEM Examples Urea cycle … but they may also occur spontaneously. When discussing how genetic conditions are passed on in a family, it is important …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… August 21, 2024 Update: The NIH-funded Genetic Counseling Training Program is temporarily pausing admissions to undergo strategic planning and development. NHGRI wants to hear from you on the current … coursework, student supervision, coordination of clinical rotations and Accreditation Council for Genetic …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the relative locations of genes and other important features. … Genetic Map, Chromosome, … By studying inheritance patterns, the relative order and location of genetic markers along a chromosome can be …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… to help gather information from the national genetics and genomics community regarding the current and future state of the clinical geneticist workforce. We will conduct these sessions … views regarding key challenges and potential solutions in clinical genetics and genomics, as well as to determine …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… This gathering was nothing short of intense, stimulating, and exhilarating, with numerous compelling ideas emerging … and the field of genomics.  … After ~16 years as Clinical Director within NHGRI's Intramural Research Program, … of rare metabolic disorders and the discovery of new genetic diseases. He has made seminal discoveries about …