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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. … Genetic …
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) … 1: genetic, functional and clinical evidence of a novel association. Cancer Research , 69 (18): 7393-7401. 2009. [ …
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. … A candidate gene is a gene whose chromosomal …
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. … 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
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… non-insulin dependent diabetes mellitus (NIDDM) genetics study and in the Integrated Network for Systematic Analysis … T2D. Over 90% of these fall in non-coding regions of the genome, making it difficult to determine what gene has its … colleagues are employing this system in CRISPRi -genome wide gene inhibition experiments to identify critical genes …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… Whom should I refer to the NIH study? We are interested in seeing patients with the … and Researchers … FAQs for Autoinflammatory Diseases Study providers and researchers. … FAQs for Autoinflammatory Diseases Study providers and researchers. … Clinical Research …