Search Results
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 … intricate relationships between clinical manifestations, metabolic defects and molecular mechanisms, and to tackle the …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… as a junior faculty member in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board … has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his … clinical observation that infection is a major cause of metabolic decompensation and associated morbidity and …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. Biesecker leads a program … and disease. In the past 20 years, he has studied rare disorders of development and overgrowth such as … clinical and molecular geneticist, Medical Genomics and Metabolic Genetics Branch, Proteus syndrome, ClinSeq … ASHG …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… of metabolism. The two IEMs studied are rare genetic disorders in which the body cannot properly turn food into … treatments, the disorder can cause recurrent episodes of metabolic acidosis (when the body produces too much acid, or … Organic Acid Research Section, 61 patients enrolled from metabolic treatment centers across the United States 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. …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… the brain, which may cause children to experience movement disorders, seizures and ongoing injury to their nerve cells. …
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.