Search Results
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… group first discovered the neural crest cell transcription factor SOX10 , which is associated with Waardenburg Syndrome IV and with human melanoma, and also identified the … discovered that mutations of the HMG-box transcription factor SOX10  result in neural crest stem cell defects in …
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 …
Research Training
The NHGRI Social and Behavioral Research Branch invites recent graduates to pursue multidisciplinary training in genomics and health.
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… commitment to developing prenatal treatments for Down syndrome. They hypothesize that giving safe and efficacious … sampling (CVS) performed in the United States, with an associated decrease in procedure-related miscarriages. … which suggests that there may be a clinically asymptomatic tumor that may or may not merit treatment. In 2019, in …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… established a multidisciplinary clinic for Prader-Willi syndrome. She then joined the faculty at the University of … as an isolated inherited condition, as part of a genetic syndrome, or as a side effect of certain medications. Dr. … cystic kidney disease (MCKD), an inherited disorder associated with gradual loss of kidney function. Dr. Hart and …
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 …
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 …