Search Results
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes … which is also known as Hutchinson-Gilford progeria syndrome, is caused by a mutation in the nuclear lamin A  … issues in childhood and adolescence that are normally associated with old age, including cardiovascular disease …
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 …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… Lung and Blood Institute in 1990 where he focused on IL2 receptor-associated kinase signaling and the search for the IL2Rg … rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of those treatment strategies are in the … Adenine-deaminase DNA Base Editor (ABE) packaged in adeno-associated virus (AAV9) customized for the c.1824C/T …
Research Training
The NHGRI Social and Behavioral Research Branch invites recent graduates to pursue multidisciplinary training in genomics and health.
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. … and Behavioral Research Branch, SBRB, Dan Kastner, Lynch Syndrome, social and behavioral science …
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 …
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 … Medical Genomics and Metabolic Genetics Branch, Proteus syndrome, ClinSeq …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… they must show at least two of the aforementioned symptoms associated with NF1. A physical examination by a doctor … treatment may include surgery or back braces. For symptoms associated with NF2, surgery may be a viable option, however … . Radiation treatment, may also help relieve symptoms associated with NF2. …
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. … has been named "progerin". They also found that HGPS is associated with significant changes in the shape of the …