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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… Burgess, Ph.D., senior investigator in the National Human Genome Research Institute’s (NHGRI) Translational and … had to look at the enhancer sequences within the zebrafish genome.  If transcription factors are thought of as the keys … The study, led by investigators at the National Human Genome Research Institute (NHGRI), may inform the development …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… from person to person. … Researchers at the National Human Genome Research Institute (NHGRI) are seeking help from … fungi and viruses living in and on all humans), the genome (all the genes in a person), and the social and … Severity of SCD Symptoms … Related Content … New NIH studies seek adults and families affected by sickle cell …
News Release
Two grants will support studies on genomic literacy among Africans relating to research conducted in Africa by African investigators.
… … Two grants totaling more than $300,000 will support studies on genomic literacy among Africans as it relates to … in the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI), part of NIH. "We hope that … Additional information about NHGRI can be found at www.genome.gov . The NIH Common Fund encourages collaboration and …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… heart attack and stroke). Based on previous epidemiology studies, it is anticipated that the prevalence of clinically … proband may also be invited to participate in these G2P studies to further characterize the biological significance … Coordinator National Institutes of Health National Human Genome Research Institute (NHGRI) Genomics of Metabolic, …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… similar faces (elongated face, almond-shaped eyes, wide nose, small ears); eye problems; feeding problems that … that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Researchers at the National Human Genome Research Institute (NHGRI) are working with patients … in individuals with mitochondrial disease. … Clinical studies give us a better understanding of how genes can cause … Multiple Congenital Anomaly Syndromes Whole Genome Medical Sequencing for Genome Discovery Myocardial …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… and solid tumors and then joined the National Human Genome Research Institute (NHGRI) in 1993. At the NHGRI, Dr. … technology provider, the microarray core is involved in a wide range of projects looking at the characterizing of … Collins F, Dunston G, Rotimi CN. Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility …
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.
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… erythematosus (SLE) and other similar conditions. Later studies found a protein called the lupus anticoagulant in a … and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood … of the uterus to its normal size). Thrombocytopenia An association with immune thrombocytopenia (low platelets) has …
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… panel sequencing) or looking at all 20,000 genes (exome or genome sequencing). Because this type of testing produces a … single nucleotide polymorphism (SNP), genome-wide association studies (GWAS) and deep sequencing for somatic …