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Educational Resources
A polygenic trait is one whose phenotype is influenced by more than one gene.
… Gene, Genotype, Inherited, Mendelian Inheritance, Phenotype, Complex Disease …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by a mutation in the … Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a … This condition is inherited in an X-linked dominant pattern. A condition is …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… of helping everyone else affected by CFZS and similar diseases in the future," said Mr. Hanson. "We've come a long …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… beginning to use a new approach for assessing a person's inherited risk for diseases like Type 2 diabetes, coronary heart disease and … provides an estimate of an individual’s risk for specific diseases, based on their DNA changes related to those … now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are …
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. ​ … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. …
Educational Resources
A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together.
… a set of DNA variations, or polymorphisms, that tend to be inherited together. … of genomic variants (or polymorphisms) that tend to be inherited together. A specific haplotype typically reflects a … a set of DNA variations, or polymorphisms, that tend to be inherited together. …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… His primary areas of interest include the development and diseases of melanocytes, the cells responsible for … research interest are the genetics of pigmentation and its diseases and the lysosomal storage disease Niemann-Pick … with an emphasis on understanding and treating human diseases, Dr. Pavan's work is focused on transformative …