Search Results
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 …
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 …
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.  …
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 …
About NHGRI
The Board of Scientific Counselors evaluates the NHGRI intramural research programs and provides periodic technical and scientific peer review.
… The Board of Scientific Counselors previews and evaluates the intramural research programs of the National Human Genome Research Institute (NHGRI) and provides periodic technical and scientific peer review of the work of our research … The Board of Scientific Counselors previews and evaluates the intramural research programs of the …