Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . … population issues; and medical rehabilitation. For more information, visit NICHD's website . National Institutes of …
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.
… variation within African genomes and using the resulting information to refine the genes, pathways, and environmental …
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… a data science. Nucleic acids are the most abundant information storage medium on Earth and every organism has …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… be among two labs using next-generation genome sequencing technology to arrive at complementary conclusions about the … and treat genomic and genetic diseases. Additional information about NHGRI can be found at its website, … and cures for both common and rare diseases. For more information about NIH and its programs, visit …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… health care providers can provide better care and information for patients and their families." The first … aspects of the project that might harm the person sharing information, and to think about ways to reduce those risks," … Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . … and cures for both common and rare diseases. For more information about NIH and its programs, visit …
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… available from the National Center for Biotechnology Information . A goat reference genome had been attempted … Ph.D., senior GIS scientist, were early adopters of this technology, and developed important tools that could assemble …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… participate in this study. We will utilize new sequencing technology and social science approaches to identify … gene therapy education project Sharing Family Health Information About Sickle Cell Disease Sickle Cell Trait … Sickle Cell Disease … Use the following contact information to get in touch with the study administrators. …
News Release
Scientists drafted the blueprint for how to build a common goldfish. Now they'll use it to find out what gives ornamental goldfish their nuanced features, gaining insight into human health.
… completion of the Human Genome Project in 2003. With new technology, it is faster and more affordable. Burgess' team … and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . … and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov . …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… improve your predictions based on genome sequence information." NHGRI Director Eric Green, M.D., Ph.D, agreed, … Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at its website, …