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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 … of reducing body myopathy caused by mutations in FHL1.. Brain , 132:452-64. 2009. [ PubMed ] J. Schessl, N.M. …
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 … well as studies utilizing cells, animal models and human brain samples. With funding from the NIH Center for … W. Glucocerebrosidase is shaking up the synucleinopathies. Brain , 137:1304-22 2014. [ PubMed ] Nalls MA, Duran R, Lopez …
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. …
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. 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 …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… at Carnegie Mellon University investigating how the human brain represents information. More specifically, they looked for semantic information in the brain while subjects perform several cognitive tasks and used … focus is on one of the most common neuropsychiatric disorders of childhood: attention deficit hyperactivity …
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 …
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 … causes tremor and/or stiffness in movement … 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 … emotional disturbance and cognitive decline. … Genetic Disorders …