Search Results
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 increased risks of … hard to understand, however specialists like geneticists and genetic counselors can help explain what results might …
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 … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by … affects small, isolated populations, the effects of genetic drift can be strong, sometimes causing traits to …
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 clinical genomic research. … team?  Not necessarily. You can submit your proposal and work with AnVIL team to make sure your resources can be …
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 … Responsibilities as a PI, consent, type of data accepted, and how to apply …  How to send data, confirming preliminary results, and returning results … Secondary Genomics Findings Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural …
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. … genetic conditions. Types of data to be analyzed include clinical/phenotypic information such as images, data from …
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 …
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, Genes, Linkage Analysis, Family … By studying inheritance patterns, the relative order and location of genetic markers along a chromosome can be …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… March 20, 2026 Update: Unfortunately, the JHU/NIH Genetic Counseling Training program will be sunsetting as of February 2027 and is not currently admitting students. This website is no … the National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI) at the National …
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 …
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
… Genetic Architecture … Genetic architecture is the combined effect of all genetic influences on a trait. … Genetic architecture describes the combined contribution of … of a trait can help us understand its evolution and underlying biology. For traits that are related to a …