Search Results
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to prepare clinical treatment trials. … are followed over time to understand the symptoms and clinical course of GNE Myopathy and related disorders. This …
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. Solomon … genetic conditions. Types of data to be analyzed include clinical/phenotypic information such as images, data from …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… genomic research for NHGRI investigators. As head of the Cancer Genomics Unit, his research efforts led to the … The Cancer Genomics Unit (CGU) focuses on adopting genomic … defect is critical for complete diagnosis and subsequent clinical management. The Chandrasekharappa lab designed a …
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
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… like Type 2 diabetes, coronary heart disease and breast cancer, which involves calculating a polygenic risk score . … to compromise the adoption of polygenic risk scores in clinical care. To address this concern, the research teams, funded … polygenic risk scores, clinical care, ClinGen, Erin Ramos …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… is a leader in the application of genome science to cancer research. His recent studies investigate the genetic … Asian Hepatocellular Carcinoma and Cholangiocarcinoma . Cancer Cell , 32(1):57-70.e3. 2017. Killian JK, Dorssers LC, … osteosarcoma profiling, melanoma profiling, breast cancer profiling, technology development …
Leadership Initiatives
The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement.Â
… role of genomics in disease risk and its integration into clinical care is increasingly important to critically examine how new … health disparities, disease risk, clinical care, interest groups …
Health FAQ
Discuss these questions with your doctor or health care provider.
… Discuss these questions with your doctor or clinical trial team. … materials to talk with your healthcare provider or a clinical trial team. … be different for each available gene therapies, including clinical trials. However, there are a few general criteria … you are eligible and decide to receive  gene therapy, your clinical team and healthcare providers will make a plan for …
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, … Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), both part of the National Institutes …