Search Results
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… Holoprosencephaly is a relatively common birth defect of the brain, which often can also affect facial features, … closely spaced eyes, small head size, and sometimes clefts of the lip and roof of the mouth, as well as other birth defects. … …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… chart the locations and understand the functions of all the chemical tags that mark the genome. … The epigenome is a multitude of chemical compounds that can tell the genome what to do. … that can lead to cancer, researchers in The Cancer Genome Atlas (TCGA) Network, which is supported by the National …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… was the first NHGRI Director and appears here as part of our history collection. Despite his scientific … will be studied in the pilot phase of The Cancer Genome Atlas . The cancers to be studied in the TCGA Pilot Project … geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations . May 10, 2016: …
File
… Program V. NIH Common Fund/Trans-NIH VI. NHGRI Division of Policy, Communications, and Education VII. NHGRI … Landscape of Aggressive Prostate Tumors An electronic atlas of human malformation syndromes in diverse populations Systematic …
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… OO , Okunola O , Alli O . Genetics Section - ‘Types of Inheritance’, ‘Autosomal Inheritance’, ‘Diagnosis of … /NIH , USA ). 12. Dueñas -Roque M , Kruszka P, Muenke M. Atlas of Human Malformation Syndromes in Diverse Populations -Prader Willi …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… Dr. David Bodine, Ph.D. is Chief of the Genetics and Molecular Biology Branch and Head of the Hematopoiesis Section at the National Human Genome Research Institute (NHGRI). NHGRI is one of the 27 Institutes and Centers making up the National …
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
… NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health. … $1000 Genome Program … Medicine and Public Health (NSIGHT) The Cancer Genome Atlas (TCGA) Undiagnosed Diseases Network (UDN)  … …
Staff
Dr. Alexander Arguello is a program director in the NHGRI Division of Genome Sciences.
… … Dr. Arguello became a program director in the Division of Genome Sciences at the National Human Genome Research … variation and phenotypic variation at various scales of biological organization, from cells and tissues to … initiatives as well as the trans-NIH BRAIN Initiative Cell Atlas Network (BICAN) team. Dr. Arguello joined the NIH in …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Nicholas Singh-Miller Building a phenotype for ALPK3 loss-of-function mutation heterozygotes: Leveraging PheWAS to … phenotyping studies PB4459 Natalie Deuitch Evaluation of hereditary predispositions to hematologic malignancy in … Genome-Wide Sequencing Implicates Monogenic Disruption of Vascular Integrity in Childhood-Onset Essential …
News Release
On its 15th anniversary, National DNA Day and NHGRI shared its genomics expertise to explain the importance of genomics in our everyday lives.
… previous National DNA Days - an annual commemoration of the completion of the Human Genome Project and the … body , with help from scientists working on the Human Cell Atlas, an initiative to create a reference map of all human … type of cells have surprised you the most? From Human_Cell_Atlas Human Cell Atlas (HCA) scientists already have had some …