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News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… a set of genomic approaches to implicating rare, inherited variants involving one or a handful of genes that … … Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect … … Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to … errors of metabolism" (IEM). Patients with IEM have an inherited deficiency of a required protein (or proteins) … a basic scientist. "The physicians have actually seen the disorders they are studying in their patients," said Dr. …
Educational Resources
A polygenic trait is one whose phenotype is influenced by more than one gene.
… is influenced by more than one gene. … Gene, Genotype, Inherited, Mendelian Inheritance, Phenotype, Complex Disease …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… p55 tumor necrosis factor receptor that cause a dominantly-inherited periodic fever syndrome now known as TRAPS (the TNF … concept of autoinflammatory disease to denote a group of disorders mediated by cells of the innate immune system. Dr. … pustulosis and multifocal osteomyelitis. This recessively-inherited disorder is now termed DIRA, the deficiency of the …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… the development of new therapies for patients with genetic disorders. … The research conducted in the Metabolic Medicine … conditions, including organic acidemias, mitochondrial disorders and skeletal dysplasias. All investigators direct … therapy and gene editing approaches to treat metabolic disorders, study immune manifestations caused by …
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. …
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 … be involved in or affect Parkinson's disease and related disorders like dementia with Lewy bodies," she said. William … benefit affected patients and provide insight into common disorders. Credit: Darryl Leja, NHGRI He also cited a 2014 …
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, …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… create a resource that researchers can use to study how inherited changes in genes lead to common diseases. It will … create a resource that researchers can use to study how inherited changes in genes lead to common diseases. … The … create a resource that researchers can use to study how inherited changes in genes lead to common diseases … Research …
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 … (GD), the prototype disorder studied, is the recessively inherited deficiency of the lysosomal enzyme … well as studies utilizing cells, animal models and human brain samples. With funding from the NIH Center for …