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Educational Resources

BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.

Educational Resources

Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.

Research Funding

Non-Coding Variants Program

The Non-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait

… of many people are sequenced, millions of sites in the genome differ among those people. Some of these genetic … of genes? A start to interpreting variation is a genome-wide association study (GWAS), in which the genomes of thousands …

Educational Resources

Syndrome

A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.

Clinical Research

Gaucher Disease Clinical Studies at NIH

In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.

… population. Classification of Gaucher Disease There is a wide variation of disease presentation and severity among … presentation of Gaucher disease worldwide. Again, there is wide span of symptoms, some patients are very similar to … Mutations in Parkinson’s Disease ”, where the study demonstrated that mutations in the GBA1 gene give …

For Patients and Families

Genetic Disorders

A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.

… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute. … Genetic Disorder, Genetic …

15 Ways Genomics Influences Our World

Microbes and Microbiomes

Genomics is advancing the study of individual and communities of microbes.

… Genomics is advancing the study of individual and communities of microbes. … Did you … difference between 2018 and 15 years ago when the Human Genome Project was completed, is that genomics is now used … "flu shot." Even so, just one mutation in the virus's genome can make a big difference in the severity of someone's …

Staff

Vence L. Bonham Jr., J.D.

Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.

… Jr. is acting deputy director of the National Human Genome Research Institute and a member of the senior … State University. Mr. Bonham was a fellow in the American Association of Medical Colleges Health Services Research … Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS), conducted at two U.S. sites and one …

Clinical Research

Genomic Services Research Program (GSRP)

A study for patients with unexpected genetic results

… A new study is recruiting people who received unexpected genetic … … The Genomic Services Research Program (GSRP) is a study of people with "secondary results” from genetic … a secondary result, you may be eligible to join this study. The purpose of this study is to learn about how people …

News Release

New regions of the human genome linked to skin color variation in some African populations

Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.

… Jeannine Mjoseth … In the first study of its kind, an international team of genomics … researchers has identified new regions of the human genome that are associated with skin color variation in some … Tanzania and Botswana has shed light on regions of the genome not previously associated with skin color. Hands of …