Search Results
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the biochemical, … tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… chromosomal condition related to chromosome 21. … Genetic Disorders …
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
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 … and her colleagues are now studying samples from different brain regions of these new cross-bred mice to discover what … the most severe forms of Gaucher disease that affect the brain, she said. Last year, Dr. Sidransky and other …
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 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 …