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, … 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. 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 … well as studies utilizing cells, animal models and human brain samples. With funding from the NIH Center for …
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. …
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. Cardiometabolic disorders, in particular hypertension, obesity and diabetes, …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Genetic Disorders …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic … Genetic Disorders …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… protein to be malformed, prone to clumping in the brain and causing the death of nearby nerve cells. Cells of the basal ganglia, a brain area responsible for coordinating movement, and of the … what the defective gene does to various structures in the brain and how it affects the body's chemistry and metabolism …
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.
… body. In Wilson disease, copper builds up in the liver, brain, eyes and other organs. Over time, the extra copper can … several of the body's systems. Either the liver or the brain can be harmed first, with signs as early as 4 years, or … cirrhosis, acute liver failure or other serious liver disorders, a liver transplant may be the only option for …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… ganglion cells can provide a visual signal to the brain. The visual scene captured by a camera is transmitted … Genetic Disorders …