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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
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 …
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 … Mutations in Parkinson’s Disease ”, where the study demonstrated that mutations in the GBA1 gene give …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
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
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … Room ) How much more sequencing, if any, is needed to study Mendelian and common disease, and what should NHGRI do … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of …
15 Ways Genomics Influences Our World
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 …
Clinical Research
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 …
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.