Search Results
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… Dr. Koehly joined the NHGRI faculty in 2005. Dr. Koehly's research focuses on developing and applying social network … affected by hereditary disease. … Under Dr. Koehly's leadership, the Social Network Methods Section focuses on … genetic risk communication within families for whom Lynch syndrome mutations and, separately, BRCA1/2 mutations, have …
File
… Workshop on Research Directions in Stevens-Johnson Syndrome Toxic Epidermal Necrolysis.pptx …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… and pediatric rheumatology from Cardinal Glennon Children’s Medical Center and Saint Louis University. In 2010, she … physician, she leads the Inflammatory Disease Section’s clinical team overseeing the care of greater than 2000 … as a separate entity to the established cytokine release syndrome. Dr. Ombrello has become increasingly recognized as …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… Anneke Seller and Dr. Michelle Bishop, Health Education's Genomics Education Programmes  (May 17, 2017) … Musunuru K, … entrustable professional activities identified by the ISCC's Competency Working Group. These case studies also include … Surgery Title: Utilizing family history to identify Lynch Syndrome Type of Case Study: Family History In collaboration …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… These tests, however, typically focus only on Down syndrome and other common trisomies. A trisomy is a condition … chief of the Prenatal Genomics and Therapy Section at NIH's National Human Genome Research Institute (NHGRI). Dr. Bianchi is also the director of NIH's Eunice Kennedy Shriver National Institute of Child Health …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… Disease Type C (NPC) DHHS Reference No.: E-060-2013 U.S. Patent 9,983,200 issued on May 29, 2018 Lead Inventor: … PCT/US2016/026524; national phases entered in the U.S., Europe, and Canada in October 2017 Lead Inventor: Charles … … Mouse Models Mouse Model of Hutchinson-Gilford Progeria Syndrome and Vascular Abnormalities DHHS Reference No.: …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… Hospital in Oxford, England and University Children’s Hospital in Athens, Greece. She then moved to the US and … genetics training through the combined NHGRI and Children’s National Hospital program, and was board certified in 2009. … on an extramural-intramural collaborative grant on Moebius syndrome and related facial weakness disorders, with …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… physician in Genetics and Metabolism at Valley Children’s Hospital in Madera, California. In 2023, she joined as a Staff Clinician in Dr. Charles Venditti’s Organic Acid Research Section in the Metabolic Medicine … Slavotinek A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… as director of the Genomics Core. Dr. Chandrasekharappa's group is essential in providing resources and services … of the encoded proteins, responsible for Alagille syndrome and multiple endocrine neoplasia type 1. His current … efforts of genes involved in Menkes disease, Parkinson's disease, and Bardet-Biedl syndrome 1. CGU developed and …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… Technology in Delhi. It was valuable to learn about India’s recent advances in genomics and plans for the future, … and precision medicine. It will be important to have India’s genomic researchers involved in those international … for 17 genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes …