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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 … and of human development. MGB investigators focus on human genetics, vertebrate embryology, inborn errors of metabolism, … for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, MGB investigators …
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 … early pediatrics training at the University of Iowa and genetics training at Baylor College of Medicine, Dr. … NHGRI appointed Dr. Shchelochkov as the new Director of Clinical and Laboratory Residencies and Fellowships. Dr. …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… their team reported their findings March 20, 2014 in PLoS Genetics. The investigators were supported by the National … control which genes are turned on and off, and when. But clinical trials of homocysteine-lowering therapies have not … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
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.
… Jeannine Mjoseth … American Society of Human Genetics (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator … ASHG … ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with …
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.
… 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.  … History Study of Children with Mitochondrial Disease NIH Clinical Center  Household Viral Exposure in Children with …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… consent. … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium … an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, … in 2010 to speed the integration of genomics into clinical medicine, is funded by the National Human Genome …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… a minimum of six hundred contact hours of supervised clinical rotations in a variety of settings, and completion … and rotations in the areas of genetic counseling, human genetics, public health, public policy, research methodology, … Public Health.​ ​ … Genetic Counseling, Genetic Testing, Clinical Genomics, Genomics In Medicine, Genomic Medicine, …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… recruiting volunteers! Each study participant will have a clinical visit that will include a medical and family … study will take place at the National Institutes of Health Clinical Center in Bethesda, Maryland. Compensation will be … Disease, Leg Ulcers, Genetic Condition, Genetic Disorder, Clinical Trial, Research Study, Sickle Cell Trait … The …
Clinical Research
The Institutional Review Board (IRB)Â is responsible for protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural investigators in NHGRI and a number of other institutes.
… An Introduction to Radiation for NIH Research Subjects NIH Clinical Research Studies Active Consent / Assent Documents … Federal-Wide Assurances (FWAs) FDA Guidance for IRBs, Clinical Investigators and Sponsors  FDA … Research Privacy, Privacy Of Research Participants, Clinical Trials, Genetic Disorders, Return Of Results, …