Search Results
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: …
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 …
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 …
Educational Resources
A retrovirus is a virus that uses 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.
… Acquired Immunodeficiency Syndrome (AIDS), Bacteria, Cell, Deoxyribonucleic Acid (DNA), …
Staff
Dr. Francis Collins was 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. … projects focuses on Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder characterized by …
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 …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… (RA); systemic lupus erythematosus (SLE), Sjögren’s syndrome, major histocompatibility complex (MHC), biological …
Staff
Dr. Ours is an Associate Research Physician at the Center for Precision Health Research, NHGRI.
… studies of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed … the efficacy of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … CA , Johnston JJ, Pike K, & Spentzou G. Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest …
Event
On November 5-9, 2024, 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
… – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … Therapies for Genetic Disorders Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib …