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Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease … led by the University of Oxford, the Broad Institute, and the University of Michigan, reveal the complexity of the …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… The Medical Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators focus on human … vertebrate embryology, inborn errors of metabolism, and neurogenetic disorders. … for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, MGB investigators …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… school at Johns Hopkins University School of Medicine and completed Obstetrics/Gynecology residency at the Mayo … at the NIH where she subsequently completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship … at NHGRI, where she sees patients with a variety of genetic and metabolic disorders, providing care in both …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… Rapid advances in human genetics/genomics research and genomic medicine are increasingly relevant to everyday … have been paralleled by innovations in science education and public engagement. ASHG and NHGRI co-sponsor the Genetics Education and Engagement … with an advanced degree who are interested in developing and implementing genetics/genomics education, community …
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
… Advances in research and their successful translation to improve health are deeply … research agendas to informing the integration of genetics and genomics in clinical settings, sound evidence-based public policies can … with an advanced degree who are early in their careers and interested in the development and implementation of …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… More than many other diagnostic technologies, genome sequencing carries the … questions about what information they should disclose, and to whom, when genome sequencing uncovers signs of possible genetic risk for disease in patients who are too young to … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… Dr. Shchelochkov is a board-certified pediatrician, clinical geneticist and medical biochemical geneticist, and is currently an … NHGRI appointed Dr. Shchelochkov as the new Director of Clinical and Laboratory Residencies and Fellowships. Dr. … Dr. Shchelochkov’s clinical research has focused on understanding the natural …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… The Metabolism, Infection and Immunity (MINI) Section at the National Institutes of … to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in … Medical Center in Washington, D.C.; fellowship training in clinical genetics and clinical biochemical genetics from the … The natural history study of alkaptonuria detailed the clinical manifestations and rates of progression of the …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our …