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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 … now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are …
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 … FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a … are treated in the usual manner. … This condition is inherited in an X-linked dominant pattern. A condition is …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
… location on a chromosome. Genetic markers can help link an inherited disease with the responsible gene. DNA segments close to each other on a chromosome tend to be inherited together. Genetic markers are used to track the …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms … unexplained fever, swollen glands and other symptoms or diseases, and then at over a quarter million people from … are routinely used to treat autoinflammatory and chronic diseases such as rheumatoid arthritis, had little effect on …
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. … Genetics Branch … 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. … Haplotype, Chromosomes, Single … 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. … Educational Resources …
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 …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research … "disease models," or laboratory animals that mimic human diseases and can be studied to test new therapies. In the … to use genome editing as a treatment for disease. Many diseases from cancer to asthma have genetic bases. Through …