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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 …
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 … defect is critical for complete diagnosis and subsequent clinical management. The Chandrasekharappa lab designed a … 1998. [ PubMed ] Chandrasekharappa SC, Teh BT. Clinical and molecular aspects of multiple endocrine …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary Genomics Findings Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural … Secondary Genomics Finding Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural … Variant, Gene Variant, Gene Variation … This team-based clinical service os provided by NHGRI to Intramural …
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 … community engagement. … health disparities, disease risk, clinical care, interest groups … The Genomics and Health …
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, … Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), both part of the National Institutes …
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 … Paul Meltzer, …
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.
… Judith Wyatt … 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 …
Health FAQ
Discuss these questions with your doctor or health care provider.
… Discuss these questions with your doctor or clinical trial team. … The Democratizing Education Project … consent process. … Gene therapy can increase your risk of cancer. This risk could come from either the chemotherapy … Outpatient mental health counseling. Primary care during and after the gene therapy.  Costs associated …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch at the … laboratory of Dr. Elaine Ostrander at the Fred Hutchinson Cancer Research Center, established the first classification … shared across breeds. Because dogs receive regular medical care and live well into their elder years, they also develop …