Search Results
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.
… laboratory research programs that focus on the development of new therapies for patients with genetic disorders. … conditions, including organic acidemias, mitochondrial disorders and skeletal dysplasias. All investigators direct … organoid, zebrafish and mouse models to mimic aspects of the conditions in the laboratory. MMB members collaborate …
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.
… cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 issue of M olecular Genetics and Metabolism . … 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 relationship in advance of Rare Disease Day at NIH , a day-long symposium that is … be involved in or affect Parkinson's disease and related disorders like dementia with Lewy bodies," she said. William …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… (CRGGH) uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, … genes interact with "new" environments in the evolution of common complex traits. … View a list of publications led by or in collaboration with the Center …
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.
… a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain. … a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain. The disorder produces a single-lobed brain …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Dr. Sidransky, chief of the Molecular Neurogenetics Section, is a pediatrician and … 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 …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… Dr. Adeyemo qualified in medicine at the University of Ibadan in Nigeria. After a residency in pediatrics and … genomics of complex disease, focusing on cardiometabolic disorders and complex disorders of childhood. He has published widely in genetics and genetic …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… syndrome is a rare genetic condition caused by a deletion of a group of genes located on chromosome number 11. Babies born with … and are at high risk for developing certain types of cancer, and mental disability. … and are at high risk for developing certain types of cancer, and mental disability. The term "WAGR" stands for …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner … They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… on regulatory medicine and clinical trials in Mendelian disorders. The series will follow one of two formats: (1) a journal club joined by one of the leading authors on a peer-reviewed publication or (2) … of regulatory medicine and clinical trials in Mendelian disorders. The series will largely follow either one of two …