The Human Genome Organisation (HUGO) is a non-profit organization founded in 1988. HUGO represents an international coordinating scientific body in response to initiatives such as the Human Genome Project. HUGO has four active committees, including the HUGO Gene Nomenclature Committee (HGNC), and the HUGO Committee on Ethics, Law and Society (CELS).
Victor Almon McKusick was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is well known for his studies of the Amish. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM). He is widely known as the "father of medical genetics".
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
The completion of the human genome sequencing in the early 2000s was a turning point in genomics research. Scientists have conducted series of research into the activities of genes and the genome as a whole. The human genome contains around 3 billion base pairs nucleotide, and the huge quantity of data created necessitates the development of an accessible tool to explore and interpret this information in order to investigate the genetic basis of disease, evolution, and biological processes. The field of genomics has continued to grow, with new sequencing technologies and computational tool making it easier to study the genome.
Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism.
Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient. According to the Centers for Disease Control and Prevention (U.S.), Public Health genomics is an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population's health.
Gene redundancy is the existence of multiple genes in the genome of an organism that perform the same function. Gene redundancy can result from gene duplication. Such duplication events are responsible for many sets of paralogous genes. When an individual gene in such a set is disrupted by mutation or targeted knockout, there can be little effect on phenotype as a result of gene redundancy, whereas the effect is large for the knockout of a gene with only one copy. Gene knockout is a method utilized in some studies aiming to characterize the maintenance and fitness effects functional overlap.
Edison T. Liu is an American chemist who is the former president and CEO of The Jackson Laboratory, and the former director of its NCI-designated Cancer Center (2012-2021). Before joining The Jackson Laboratory, he was the founding executive director of the Genome Institute of Singapore (GIS), chairman of the board of the Health Sciences Authority, and president of the Human Genome Organization (HUGO) (2007-2013). As the executive director of the GIS, he brought the institution to international prominence as one of the most productive genomics institutions in the world.
Aravinda Chakravarti is a human geneticist and expert in computational biology, and Director of the Center For Human Genetics & Genomics at New York University. He was the 2008 President of the American Society of Human Genetics. Chakravarti became a co-Editor-in-Chief of the journal Genome Research in 1995, and of the Annual Review of Genomics and Human Genetics' in 2005.
The International Human Epigenome Consortium (IHEC) is a scientific organization, founded in 2010, that helps to coordinate global efforts in the field of Epigenomics. The initial goal was to generate at least 1,000 reference (baseline) human epigenomes from different types of normal and disease-related human cell types.
B K Thelma commonly known as Bittianda Kuttapa Thelma is a professor in the Department of Genetics at the University of Delhi, South Campus, New Delhi, India. She is the Principal investigator and Co-ordinator of the Centre of excellence on Genomes Sciences and Predictive Medicine funded by the Govt. of India. She is also the Co-ordinator of a major project on newborn screening for inborn errors of metabolism in Delhi state which aims to demonstrate the feasibility of mandatory screening of newborns in the country and to generate epidemiological data for the testable IEMs in the genetically distinct Indian population, for the first time.
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.
Nicole Soranzo is an Italian-British senior group leader in human genetics at the Wellcome Sanger Institute, Professor of Human Genetics at the University of Cambridge. She is an internationally recognised Human Geneticist who has focused on the application of cutting edge genomic technologies to study the spectrum of human genetic variation associated with cardio-metabolic and immune diseases. She has led many large-scale discovery efforts including more than 1,000 novel genetic variants associated with cardio-metabolic diseases and their risk factors as well as establishing the HaemGen consortium, which is a worldwide effort to discover genetic determinants of blood cell formation and also interpretation of the downstream consequences of sequence variation through a host of integrative analyses and functional approaches.
Sarah Anne Tishkoff is an American geneticist and the David and Lyn Silfen Professor in the Department of Genetics and Biology at the University of Pennsylvania. She also serves as a director for the American Society of Human Genetics and is an associate editor at PLOS Genetics, G3, and Genome Research. She is also a member of the scientific advisory board at the David and Lucile Packard Foundation.
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.
Giuseppe Merla is an Italian scientist who is a Full Professor of Molecular Biology at University of Naples Federico II, Naples, Italy and medical geneticist at Casa Sollievo della Sofferenza in San Giovanni Rotondo, Italy. He is the Managing Director of Fondazione Telethon-Genomic and Genetics Disorders Biobank, a member of EuroBioBank at the Casa Sollievo della Sofferenza Hospital. Merla and his team led the discovery of a new rare genetic syndrome intellectual development disorder with cardiac arrhythmia and the gene responsible for it. Merla is also known for his extensive research on Kabuki Syndrome. He has been declared as the Ambassador of Kabuki syndrome and received the 2019 Ambassador Day award at the Royal Villa of Monza.
Emmanouil Theophilos Dermitzakis is a Greek human geneticist and professor in the Department of Genetic Medicine and Development at the University of Geneva, where he is also Director of the Health 2030 Genome Center. He is an ISI Highly Cited Researcher and an elected member of the European Molecular Biology Organization. He is a member of the Swiss Institute of Bioinformatics, where his research group is focused on the genetics and genomics of complex traits in humans. He has joined GlaxoSmithKline as Vice President, Computational Biology in R&D.
The Institute of Genetics and Genomics of Geneva, also known as iGE3, is a research institute in Geneva, Switzerland. The institute is affiliated with the University of Geneva and focuses on conducting biomedical research and teaching based on genetic and genomic scientific analysis. The abbreviation "iGE3" was devised by its former director Stylianos Antonarakis by combining "institute" and "GEnetics, GEnomics, GEneva". The institute's inauguration ceremony was held on February 8, 2012 and as of October 2020 the institute is directed by Emmanouil Dermitzakis.
Haig H. Kazazian, Jr. was a professor in the Department of Genetic Medicine at Johns Hopkins University School of Medicine in Baltimore, Maryland. Kazazian was an elected member of the National Academy of Sciences and the American Academy of Arts and Sciences.
