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Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… genes, SCID makes those affected highly susceptible to life-threatening infections by viruses, bacteria and … on the X chromosome. Another form of SCID is caused by a deficiency of the enzyme adenosine deaminase (ADA), normally … A family history of immune deficiency or infant deaths due to infections … X-linked severe combined immunodeficiency …
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.
… the natural history of and novel therapeutic approaches to metabolic disorders. In 2006, he joined the lab of Dr. … M . Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B . Arch Neurol 66(8):1028-32, 2009. … in a research subject with ornithine transcarbamylase deficiency. Mol Genet Metab 105(2):263-5, 2012. PMCID: …
Clinical Research
El Programa de Enfermedades no Diagnosticadas (UDP) proporcionar respuestas a los pacientes con afecciones misteriosas que han eludido el diagnóstico durante mucho tiempo.
… The Undiagnosed Diseases Network 2014 July 21, 2014: One of a Kind: What would you do if your child has a condition new to science? The New Yorker July 2, 2014: Rare Diseases … Program HealthDay July 1, 2014: NIH expands program to crack medical mysteries Science July 1, 2014: Medical …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… Dr. Abdel Elkahloun obtained his B.Sc. from the University of Caen, and a M.Sc. and Ph.D. from the University of Rennes, … Elkahloun started applying large scale screening methods to identify genes associated with osteosarcomas and was part … of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines. BMC …
Talking Glossary
Un rasgo, en lo que se relaciona a la genética, es una caracterÃstica especÃfica de una persona.
… especÃfica de una persona. … A trait, as related to genetics, is a specific characteristic of an individual. Traits can be determined by genes, environmental factors or by a combination of both. Traits can be qualitative (such as eye color) or …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… Faherty … 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 … also found in some foods. The body needs some cholesterol to work properly and uses cholesterol to make hormones, vitamin D, and substances that help 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 … (nearsightedness from the increased curve of the retina due to connective tissue changes in the globe of the eye). …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… is a clinical and molecular geneticist and is the chief of the Center for Precision Health Research at the National … of Health. He uses genetic and genomic technologies to study the etiology of inherited disorders. He received his … discovery of a gene associated with coronary artery calcification using transcriptome sequencing and the use of a …
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. … Researchers often divide genetic diseases …