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Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… the genetic, epigenetic and metagenomic basis of human disorders. … TFGB researchers have developed a wide range of … into improved diagnoses and therapeutics for human disorders. … Overview … Branch Staff … Translational and … the genetic, epigenetic and metagenomic basis of human disorders. ​ … The Translational and Functional Genomics …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… the belly for testing their fetuses for a range of genetic disorders. This non-invasive blood test, combined with … the belly for testing their fetuses for a range of genetic disorders. ​ … Prenatal genome sequencing, genome sequence … the belly for testing their fetuses for a range of genetic disorders. … News Release …
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… the development of new therapies for patients with genetic disorders. … The research conducted in the Metabolic Medicine … conditions, including organic acidemias, mitochondrial disorders and skeletal dysplasias. All investigators direct … therapy and gene editing approaches to treat metabolic disorders, study immune manifestations caused by …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to … a basic scientist. "The physicians have actually seen the disorders they are studying in their patients," said Dr. … of Dr. McGuire's mentors and also specializes in metabolic disorders. His expertise lies in a disorder known as …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Blood Institute, the National Institute of Neurological Disorders and Stroke, the University of Florida, Northwestern …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… research focuses on the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and … medicine and rheumatology. … Biography … Genomics of Autoimmune Rheumatic Disease Section Staff … Lindsey A. … Genomics Branch. … Lindsey Criswell, genetic risk factors, autoimmune disease, rheumatoid arthritis (RA); systemic lupus …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… patients and also provides insights into more common disorders.​ … They are underlining this important … be involved in or affect Parkinson's disease and related disorders like dementia with Lewy bodies," she said. William … benefit affected patients and provide insight into common disorders. Credit: Darryl Leja, NHGRI He also cited a 2014 …