The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and was completed in 2003. It remains the world's largest collaborative biological project. Planning for the project started after it was adopted in 1984 by the US government, and it officially launched in 1990. It was declared complete on April 14, 2003, and included about 92% of the genome. Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. The final gapless assembly was finished in January 2022.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
Francis Sellers Collins is an American physician-geneticist 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.
McDonnell Genome Institute at Washington University in St. Louis, Missouri, is one of three NIH funded large-scale sequencing centers in the United States. Affiliated with Washington University School of Medicine and the Alvin J. Siteman Cancer Center, the McDonnell Genome Institute is creating, testing and implementing new approaches to the study of genomics with the goal of understanding human health and disease, as well as evolution and the biology of other organisms.
Translational bioinformatics (TBI) is a field that emerged in the 2010s to study health informatics, focused on the convergence of molecular bioinformatics, biostatistics, statistical genetics and clinical informatics. Its focus is on applying informatics methodology to the increasing amount of biomedical and genomic data to formulate knowledge and medical tools, which can be utilized by scientists, clinicians, and patients. Furthermore, it involves applying biomedical research to improve human health through the use of computer-based information system. TBI employs data mining and analyzing biomedical informatics in order to generate clinical knowledge for application. Clinical knowledge includes finding similarities in patient populations, interpreting biological information to suggest therapy treatments and predict health outcomes.
The acronyms ELSI and ELSA refer to research activities that anticipate and address ethical, legal and social implications (ELSI) or aspects (ELSA) of emerging sciences, notably genomics and nanotechnology. ELSI was conceived in 1988 when James Watson, at the press conference announcing his appointment as director of the Human Genome Project (HGP), suddenly and somewhat unexpectedly declared that the ethical and social implications of genomics warranted a special effort and should be directly funded by the National Institutes of Health.
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.
The New York Genome Center (NYGC) is an independent 501(c)(3) nonprofit academic research institution in New York, New York. It serves as a multi-institutional collaborative hub focused on the advancement of genomic science and its application to drive novel biomedical discoveries. NYGC's areas of focus include the development of computational and experimental genomic methods and disease-focused research to better understand the genetic basis of cancer, neurodegenerative disease, and neuropsychiatric disease. In 2020, the NYGC also has directed its expertise to COVID-19 genomics research.
Jeffrey M. Trent is the founding president and director of the Translational Genomics Research Institute. He has been vice president and Research Director of the Van Andel Institute since 2009. He was the founding director of NIH's National Human Genome Research Institute in 1993.
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.
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.
Kathy Lynn Hudson is an American microbiologist specializing in science policy. She was the deputy director for science, outreach, and policy at the National Institutes of Health from October 2010 to January 2017. Hudson assisted in the creation and launch of All of Us, the BRAIN initiative, and the National Center for Advancing Translational Sciences. She founded the Genetics and Public Policy Center at Johns Hopkins University in 2002. Hudson is an advocate for women in science.
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.
Katrina A. Blouke Goddard is an American genetic epidemiologist and biostatistician specializing in public health genomics and the translation of genomic applications into clinical practice. Goddard is the director of the division of cancer control and population sciences (DCCPS) at the National Cancer Institute (NCI). She was previously the distinguished investigator and director of translational and applied genomics at the Kaiser Permanente Center for Health Research and a faculty member at Case Western Reserve University.
Wylie Burke is a Professor Emerita and former Chair of the Department of Bioethics and Humanities at the University of Washington and a founding co-director of the Northwest-Alaska Pharmacogenomics Research Network, which partners with underserved populations in the Pacific Northwest and Alaska.
