Search Results
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, … Data generated from this cohort includes: multiple cardiometabolic phenotypes, genotypes from the Affymetrix … that have been generated on this sample includes: multiple cardiometabolic phenotypes, genotypes from the Affymetrix …
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 …
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 …
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 …
Educational Resources
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain.
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… interests focus on genetically-caused neuromuscular disorders of childhood. In his clinical practice, formerly at … uses next-generation genomic tools to identify new genetic disorders, as well as to carefully establish phenotypic … are perturbed in muscular dystrophy and other muscle disorders. Their overriding goal - in both the laboratory and …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the complexity encountered in "simple" Mendelian disorders, the association between Gaucher disease and … protocols evaluating patients with lysososmal storage disorders and prospectively studying patients and relatives … contributing to clinical heterogeneity in single gene disorders, and to develop new therapies for patients. The …