The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland.
Genetic discrimination occurs when people treat others differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination. Some legal scholars have argued for a more precise and broader definition of genetic discrimination: "Genetic discrimination should be defined as when an individual is subjected to negative treatment, not as a result of the individual's physical manifestation of disease or disability, but solely because of the individual's genetic composition." Genetic Discrimination is considered to have its foundations in genetic determinism and genetic essentialism, and is based on the concept of genism, i.e. distinctive human characteristics and capacities are determined by genes.
The Genetic Information Nondiscrimination Act of 2008, is an Act of Congress in the United States designed to prohibit some types of genetic discrimination. The act bars the use of genetic information in health insurance and employment: it prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future, and it bars employers from using individuals' genetic information when making hiring, firing, job placement, or promotion decisions. Senator Ted Kennedy called it the "first major new civil rights bill of the new century." The Act contains amendments to the Employee Retirement Income Security Act of 1974 and the Internal Revenue Code of 1986.
Maxine Frank Singer is an American molecular biologist and science administrator. She is known for her contributions to solving the genetic code, her role in the ethical and regulatory debates on recombinant DNA techniques, and her leadership of Carnegie Institution of Washington. In 2002, Discover magazine recognized her as one of the 50 most important women in science.
Francis Sellers Collins is an American physician-scientist who discovered the genes associated with a number of diseases and led the Human Genome Project. He served as director of the National Institutes of Health (NIH) in Bethesda, Maryland, from 17 August 2009 to 19 December 2021, serving under three presidents.
Alan Edward Guttmacher is an American physician who was the director of the National Institute of Child Health (NICHD), one of the 27 institutes and centers that comprise the National Institutes of Health (NIH). In that capacity, he oversaw the institute’s activities as the focal point at the NIH for research in pediatric health and development, maternal health, reproductive health, intellectual and developmental disabilities, and rehabilitation medicine, among other areas.
Eric D. Green is an American genomics researcher who had significant involvement in the Human Genome Project. He is the director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH), a position he has held since 2009.
The National Center for Advancing Translational Sciences (NCATS) was established on December 23, 2011 and is located in Bethesda, Maryland. NCATS is one of 27 institutes and centers of the U.S. National Institutes of Health (NIH), an agency of the U.S. Department of Health and Human Services. The mission of NCATS is to transform scientific discoveries into new treatments and cures for disease that can be delivered faster to patients. The budget provided to NCATS for fiscal year 2018 is $557,373,000.
The PhenX Toolkit is a web-based catalog of high-priority measures related to complex diseases, phenotypic traits and environmental exposures. These measures were selected by working groups of experts using a consensus process. PhenX Toolkit's mission is to provide investigators with standard measurement protocols for use in genomic, epidemiologic, clinical and translational research. Use of PhenX measures facilitates combining data from a variety of studies, and makes it easy for investigators to expand a study design beyond the primary research focus. The Toolkit is funded by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) with co-funding by the Office of the Director (OD), the National Institute of Neurological Disorders and Stroke (NINDS), and the National Heart, Lung, and Blood Institute (NHLBI). Continuously funded since 2007, PhenX has received funding from a variety of NIH institutes, including the National Institute on Drug Abuse (NIDA), the National Institute on Mental Health (NIMH), the National Cancer Institute (NCI) and the National Institute on Minority Health and Health Disparities (NIMHD). The PhenX Toolkit is available to the scientific community at no cost.
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.
Elaine Ann Ostrander is an American geneticist at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) in Bethesda, Maryland. She holds a number of professional academic appointments, currently serving as Distinguished and Senior Investigator and head of the NHGRI Section of Comparative Genomics; and Chief of the Cancer Genetics and Comparative Genomics Branch. She is known for her research on prostate cancer susceptibility in humans and for conducting genetic investigations with the Canis familiaris —the domestic dog— model, which she has used to study disease susceptibility and frequency and other aspects of natural variation across mammals. In 2007, her laboratory showed that much of the variation in body size of domestic dogs is due to sequence changes in a single gene encoding a growth-promoting protein.
Charles Nohuoma Rotimi is the Scientific Director of the National Human Genome Research Institute (NHGRI). He joined the National Institutes of Health (NIH) in 2008 as the inaugural Director of the Trans-NIH Center for Research in Genomics and Global Health and was also the chief of the NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. He works to ensure that population genetics include genomes from African populations and founded the African Society of Human Genetics in 2003 and was elected its first president. Rotimi was instrumental in the launch of the Human Heredity and Health in Africa (H3Africa) with the NIH and the Wellcome Trust. He was elected to the National Academy of Medicine in 2018.
Medical genetic ethics is a field in which the ethics of medical genetics is evaluated. Like the other field of medicine, medical genetics also face ethical issues.
Janine Austin Clayton is an American ophthalmologist. She is the NIH associate director for research on women's health and director of the Office of Women's Health. Clayton was previously the deputy clinical director of the National Eye Institute.
Charmaine DM Royal is an American geneticist and Associate Professor at the Institute for Genome Sciences & Policy and the Department of African and African American Studies at Duke University. She studies the intersections of race, ethnicity, ancestry genetics, and health, especially as they pertain to historically marginalized and underrepresented groups in genetic and genomic research; and genomics and global health. Her major interest is in addressing root causes and implementing sustainable solutions regarding problems of race and racism in research, healthcare, and society. Royal is a Human Heredity and Health in Africa (H3Africa) Independent Expert Committee (IEC) member appointed by the National Institutes of Health (NIH) and is a 2020 Ida Cordelia Beam Distinguished Visiting Professor at the University of Iowa.
Vence L. Bonham Jr. is an American lawyer who is the acting Deputy Director of the National Human Genome Research Institute (NHGRI) of the U. S. National Institutes of Health, and is the leader of the NHGRI Health Disparities Unit. His research focuses on social determinants of health, particularly with regard to the social implications of new genomic knowledge and technologies.
Tara Matise is an American geneticist at Rutgers University. Since 2018, she has served as chair of the Department of Genetics. Her research interests span computational genetics, data science, and human genetics. She is co-director of the Rutgers University Genetics Coordinating Center.
Adebowale A. Adeyemo is a Nigerian physician-scientist and genetic epidemiologist specialized in genomics and cardiometabolic disorders. He is the deputy director and chief scientific officer of the Center for Research on Genomics and Global Health at the National Human Genome Research Institute.
Carrie Wolinetz is the Principal and Chair of Lewis-Burke Associate's Health and Bioscience Innovation Policy Practice Group. She formerly served in the National Institutes of Health as Senior Advisor to the Office of the Director, Associate Director for Science Policy, and Chief of Staff to Francis Collins. She also led the inaugural Health and Sciences division in the White House Office of Science and Technology Policy.
