Search Results
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… After his early pediatrics training at the University of Iowa and genetics training at Baylor College of Medicine, Dr. Shchelochkov was a tenure-track assistant … professor within the Pediatrics Department and Division of Genetics at the University of Iowa Hospitals and Clinics. …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… A year ago,14-year-old Rohith Lokesh spent most of his days in extreme pain. He could barely walk and used a … in his hometown of Bangalore, India, seeking answers as to why he was experiencing joint pain and recurrent high … at his school and proudly showing off his dance moves due to the efforts of the researchers at the National …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… is an inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol beginning at … is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol beginning at … also found in some foods. The body needs some cholesterol to work properly and uses cholesterol to make hormones, …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side. … on the same side (ipsilateral hand). Sometimes referred to as "Poland syndrome," it is an uncommon condition present …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… that are affected by changes in either one or many of their genes, frequently coupled with environmental … factors. Researchers are studying these changes to understand the role that genetics plays in diseases across … a disease, based on the total number of changes related to the disease. …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Dr. Stewart studies phenotypes and genetic determinants of familial tumor-predisposition disorders. The goal of his work is to improve disorder-specific clinical care and cancer risk … the first reported cancer predisposition syndrome due to altered microRNA biogenesis. Tumors associated with …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals. … Marfan syndrome is one of the most common inherited disorders of connective tissue. … dominant condition occurring once in every 10,000 to 20,000 individuals. There is a wide variability in …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… Metabolism is a sequence of chemical reactions that take place in cells in the body. These reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. … that causes a block in a metabolic pathway leading to clinically significant consequences. …
Talking Glossary
Un rasgo, en lo que se relaciona a la genética, es una caracterÃstica especÃfica de una persona.
… los ojos) o cuantitativos (como la estatura o la presión arterial). Un rasgo determinado es parte del fenotipo general …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… This study was initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has expanded to include several novel and undiagnosed causes of … diseases. Some autoinflammatory diseases have been shown to be single-gene disorders of natural immunity, while other …