Search Results
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
The N​on-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
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Clinical Research
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 … of research of our team. … Ongoing, currently recruiting: Studies of Genetic Heterogeneity in Patients with Lysosomal …
For Patients and Families
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 …
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… 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 … knowledge, particularly in communities of color. He studies how genomics influences the use of the constructs of …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… 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 … Genetic Disease Research Branch at NIH's National Human Genome Research Institute. "The paper also provides a …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… and Skin Diseases (NIAMS) and at the National Human Genome Research Institute (NHGRI) since 1997. Dr. Sood was … bioinformatics tools to her research ranging from genome-wide association studies to positional cloning to functional …