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Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… influence how their body handles that medication. Because of this natural genomic variation , people can respond … risk for an adverse reaction.  Pharmacogenomics is part of the growing medical areas of genomic medicine and precision medicine (also called … testing? Studies indicate that more than 98% of people may have a genomic variant that could affect how …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … in the formation of sperm, while the remainder are due to errors in egg development. Women who have pregnancies after …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… Global Health (CRGGH) facilitates a global understanding of the relationship between human genetic variation and … in disease distribution, with the ultimate goal of informing health disparities. Its investigators will … models that will explore the patterns and determinants of common complex diseases in populations in the United …
Educational Resources
Mitochondrial DNA is the small circular chromosome found inside mitochondria.
… Located in the cytoplasm, mitochondria are the site of the cell’s energy production and other metabolic …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner … They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do …
Staff
Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.
… Joan E. Bailey-Wilson, Ph.D. has been on the faculty of the National Human Genome Research Institute, National Institutes of Health since 1995. Her research program focuses on … from Indiana University in 1981 under the direction of Joe C. Christian, M.D., Ph.D. She then completed …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… (JCVI) as a bioinformatics engineer under the supervision of Dr. Granger Sutton. During his three years at JCVI, he contributed to the development of the Celera Assembler, which has been used to assemble both … under the supervision Dr. Mihai Pop at the University of Maryland, College Park, where he developed several tools …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… April is upon us, bringing warmer weather and one of the highlights of the year, National DNA Day . On April 25, NHGRI will host a range of exciting activities and events, including the annual … people worldwide have type 2 diabetes. However, studies of this condition have mostly been performed in North America …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… Categories for the notable accomplishments of research are defined (below) as research that uses … a need for broader research for the systematic uptake of genomic research findings and other evidence-based … into routine practice. Systematic Implementation Uptake of genomics into patients’ medical care with definition and …
File
… fx ! www.acmg.net May 14, 2015 Recent Activities of The American College of Medical Genetics and Genomics The … Trimethylamine N-oxide Production in Patients with Inborn Errors of Metabolism Requiring Supplemental Carnitine Despite … American College of Medical Genetics and Genomics Report.pdf …