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News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… on the psychosocial impact of genetic testing for Lynch Syndrome-associated cancer . The genes associated with Lynch syndrome had just been discovered. "Jill was working on a … as they say, is history." People with identified Lynch syndrome mutations were waiting a long time before informing …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… … Crohn's Disease, Inflammatory Disorder, Irritable Bowel Syndrome, Abdominal Pain, Bowel Disorder … Crohn's disease is …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of those treatment strategies are in the … for therapeutic development. Hutchinson-Gilford Progeria Syndrome In the ultra-rare premature aging disorder HGPS, Dr. … Adenine Base Editing Rescues Hutchinson-Gilford Progeria Syndrome . Nature . 2021 Jan;589(7843):608-614. doi: …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… Huntington's disease, a familial endocrine cancer syndrome, and most recently, genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare condition that causes premature aging. Dr. … . Diabetes, 62:3943-50. 2013. Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I; …
Educational Resources
The Y chromosome is one of the two sex chromosomes that are involved in sex determination.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … The Y chromosome is one of the two sex …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … X-linked, as related to genetics, refers to …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… of development and overgrowth such as Pallister-Hall syndrome, McKusick-Kaufman syndrome and Proteus syndrome. He initiated ClinSeq® , a large-scale medical …
Educational Resources
A retrovirus is a virus that uses RNA as its genetic material.
… RNA as its genetic material. … Acquired Immunodeficiency Syndrome (AIDS), Cancer, Cell, Deoxyribonucleic Acid (DNA), …
Educational Resources
A virus is an infectious agent that occupies a place near the boundary between the living and the nonliving.
… the living and the nonliving. … Acquired Immunodeficiency Syndrome (AIDS), Bacteria, Cell, Deoxyribonucleic Acid (DNA), …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… DATA Scholars Program, DSI-Africa, ClinGen, Long QT Syndrome … In the March 2020 edition of The Genomics …