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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.
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, … chronic complex diseases such diabetes and cardiovascular disorders. Data generated in the CRGGH will continue to … genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, …
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 …
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 …
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 … of regulatory medicine and clinical trials in Mendelian disorders. The series will largely follow either one of two … of regulatory medicine and clinical trials in Mendelian disorders. … Event …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… genomics of complex disease, focusing on cardiometabolic disorders and complex disorders of childhood. He has published widely in genetics … broad areas: the genetic epidemiology of cardiometabolic disorders and the genetics of complex disease in childhood. …
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 focuses on disorders of sialic acid metabolism and of lysosome-related …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… cirrhosis, acute liver failure or other serious liver disorders, a liver transplant may be the only option for … Gene Tests Genetic Alliance National Organization for Rare Disorders Finding Reliable Health Information Online … What … leading to organ damage that may cause death. … Genetic Disorders …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… delays and malformations of the ribs. … Genetic Disorders …