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Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… panel sequencing) or looking at all 20,000 genes (exome or genome sequencing). Because this type of testing produces a … single nucleotide polymorphism (SNP), genome-wide association studies (GWAS) and deep sequencing for somatic … FAQs for participants in the Autoinflammatory Diseases Study. …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood … of the uterus to its normal size). Thrombocytopenia An association with immune thrombocytopenia (low platelets) has … conditions similar to multiple sclerosis. Evidence for an association with cognitive dysfunction is growing. Heart …
Staff
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… Yearly, the core has 30-40 transgenic projects to study the mechanisms in human genetic diseases using mouse …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… prenatally or after birth. Genetic testing is also used to study the genomes of tumors in cancer cases. …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… affected individuals. His research group established the association among a variety of novel NF1 phenotypes, … the NIH principal investigator for a new natural history study on the DICER1 -related pleuropulmonary blastoma (PPB) … rhabdomyosarcoma and medulloblastoma. The purpose of the study is to better understand the phenotype and prevalent …
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 … Stanford University Integration of functional data and GWAS to elucidate genetic basis of disease R01 HG008140 …
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 candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… in that trait, thus making it a candidate for additional study. …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
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. … 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 …