Search Results
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases … Each clinical site will contribute local medical expertise to the … countries. The network builds on a program at the NIH Clinical Center in Bethesda, Md., that for the past six years …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… the researchers at the National Institutes of Health (NIH) Clinical Center. … taking place at NIH is critical. The same cutting-edge clinical medicine that was used to help Rohith might help … M.D., and Tina Romeo, research nurse gather at the NIH Clinical Center to discuss the patient's care. Image Credit: …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic … and the health outcomes and policy implications of that clinical use. Already, genomic medicine is making an impact … to translate a novel research finding into routine clinical practice. This time lag is due to a combination of …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Dartmouth. He completed medical training in pediatrics and clinical genetics through a joint Children’s … bioinformaticists, and bench-based scientists to deliver clinical care and conduct genomic research. In 2016, Dr. … In this role, which he held until returning to NHGRI as Clinical Director, he led a team of over 400 molecular …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science … promising genetic-based curative therapies safely into clinical trials.  NIH is working closely with the Centers … has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social …
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  Acute Infection in Mitochondrial Disease  …
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 … 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 …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… 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 …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Dr. William Gahl, clinical director at the National Human Genome Research … Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference, he wanted to inspire. "As … established in 2014. The UDN has created a network of clinical centers that receives patient applications, reviews …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… physician at Children's National Hospital, as the Clinical Director of the Neurofibromatosis type 1 (NF1) … Her main area of professional interest is in the clinical and translational research of neurodevelopmental … and methodological adaptations for very small clinical trials will advance the access and evaluation of therapeutic …