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Staff
Dr. Mo is an adjunct staff clinician in the Hematology Laboratory, Department of Laboratory Medicine in the NIH Clinical Center.
… provides phenotype-genotype correlation studies through large EHR-linked biobanks, such as All of Us Research Program …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… in human genomes, ranging from small differences to large differences.  A very small subset of genomic variants … of nucleotides to larger chromosomal regions. These large-scale genomic differences are called structural … are considered structural variants; in fact, such large tandem repeats account for nearly half of the …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… humans physiologically, its genome contains a surprisingly large number of genes. Piwi1-positive spermatogonia are shown … humans physiologically, its genome contains a surprisingly large number of genes that are like human disease genes, …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… the cystine-depleting agent cysteamine, a life-saving compound, to New Drug Approval in 1994 by his testimony … Known for his relentless repertoire of jokes, Bill has a large personality that is known well beyond NHGRI. His …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… M.D., Ph.D. Office of Technology Transfer Abstract Synthetic Methylmalonyl-CoA Mutase Transgene for the …
The Genomics Landscape
In April 6, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how NHGRI will hold a symposium on National DNA Day, April 25, highlighting relevant and interesting topics in genomics and concluding with the annual Louise M. Slaughter National DNA Day Lecture.
… 300 dogs to characterize their genetic ancestry and found large, complex families of dogs living in both locations. …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2021.
… Protein Sequencing (R43/R44) RFA-HG-20-014 - Novel Synthetic Nucleic Acid Technology Development (R01) RFA-HG-20-015 - Novel Synthetic Nucleic Acid Technology Development (R21) RFA-HG-20-016 - Novel Synthetic Nucleic Acid Technology Development (R43/R44) …
The Genomics Landscape
In the February 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the new director of NHGRI's Division of Genome Sciences.
… in conjunction with her experience in managing large research collaborations, will make her an excellent … NHGRI and NCI, Carolyn mastered the art of managing large, highly interactive consortia. TCGA produced … of Somatic Cell Genome Editing Tools Development of Large Animal Reporter Systems for Testing Somatic Cell Genome …