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 … 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 …
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 …
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 …
File
… Workshop on Research Directions in Stevens-Johnson Syndrome Toxic Epidermal Necrolysis.pptx …
Fact Sheet
Viruses are bundles of genetic material wrapped in a protein coat that can infect living things.
… things. Viruses cause damage by hijacking a host cell's machinery to make copies of themselves, often disrupting … its nucleic acid material interferes with the host cell's functions, essentially hijacking the proteins and other … However, when many viral particles infect an organism's cells at the same time, they may cause anything from …
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 … Dr. Galarreta’s research interests have encompassed several areas, …
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) … 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 …
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. … Dr Manoli’s research combines clinical studies with molecular genomics …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… is at heightened risk for genetic disorders, such as Down Syndrome and spina bifida. The emergence of statistical … during the 18th and 19th centuries. Charles Darwin’s theory of evolution through the mechanism of natural selection. Gregor Mendel’s laws of inheritance. Eugenic theories and scientific racism …
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 …