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News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… disease with no known cure. Today, Dr. McGuire is one of the world's leading experts in the disease, and, armed … 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. …
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 . … A single mutation … 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 …
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. … Holoprosencephaly, Developmental Disorder, … a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left …
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, … chronic complex diseases such diabetes and cardiovascular disorders. Data generated in the CRGGH will continue to …
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 …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… weight loss with their overweight patients - for fear of alienating the patients or being ignored - two recent … that doctor-patient talks about the genomic underpinnings of obesity can pay off. … There can be a downside, of course. … inheritance and obesity, physician counseling and obesity, childhood diet, Susan Persky, Social and Behavioral Research …
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 … of regulatory medicine and clinical trials in Mendelian disorders. The series will largely follow either one of two …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to … molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments for these illnesses. Her research …