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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… the researchers at the National Institutes of Health (NIH) Clinical Center. … Transformative Research Rohith is just one … 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: …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… 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. … is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. …
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 …
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 …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Disease NINDS: Tay-Sachs Disease Information Page Genetics Home Reference: Tay-Sachs disease GARD: Tay-Sachs …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new … that a study participant in an investigation of the genetics of heart disease possesses a gene variant related to … law regarding return of genetic IRRs and IFs is the Clinical Laboratory Improvement Amendments of 1988 (CLIA) , …
Clinical Research
A study for patients with unexpected genetic results
… discover other treatable health conditions … The NIH Clinical Center is located in Bethesda, MD (near Washington, … … A study for patients with unexpected genetic results … Clinical Research …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… of genomics into medical practice. The diverse clinical research portfolio of the laboratory she works in … social and behavioral questions related to the practice of clinical genomics and genetic counseling. Her work in this … these approaches to understand how best to meet the clinical demands of the expanding role of genome and exome …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund …