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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program4
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.
… to improve human health. The National Human Genome Research Institute (NHGRI) provides both institutional and … the structure and biology of genomes; the genomics of disease; the implementation and effectiveness of genomic … the structure and biology of genomes; the genomics of disease; the implementation and effectiveness of genomic …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… wee creature is making big waves in the sea of genomics research. The zebrafish is a powerhouse tool that helps … better understand the genes that are implicated in disease. And, here at the National Human Genome Research … from human patient samples that have a particular genetic disease. These findings can be specific mutations that cause …
Research Training
The NHGRI Social and Behavioral Research Branch invites recent graduates to pursue multidisciplinary training in genomics and health.
… The Social and Behavioral Research Branch (SBRB), an intramural research branch of the … translation of genomic discoveries for health promotion, disease prevention, genetic counseling, and health care … Factors, Genomic Discoveries, Health Promotion, Disease Prevention, Genetic Counseling, Health Care …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… Amy Bentley … Over the past year, the Intramural Research Program of the National Human Genome Research … newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI … joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin's McArdle Laboratories for Cancer … Dr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic … He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the disease … available from researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that … the future. … ADHD often appears to run in families, and research studies have suggested that there may be a genetic … Attention Deficit Disorder, Genetic Disorder, Genetic Disease, Genetic Condition, Gene Mutation … The Attention …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. … Cyndi Tifft opened a bag and … Dr. Tifft, a geneticist at the National Human Genome Research Institute, first met Jojo in 2016. Jojo and her …
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … and Prevention (CDC)    Caregivers of Children with Rare and/or Serious Illnesses  National Alliance for … (NIMH)   … Questions to Ask About Volunteering for a Research Study  U.S. Department of Health and Human Services …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… Although a role for genetics in the development of the disease has been supported, it is unclear whether this … genes all with small effects) or is more consistent with rare Mendelian diseases that are more striking in childhood … by more severe multisystem dysfunction. Despite decades of research, the underlying reasons why some children develop …