Genetics is the study of genes, genetic variation, and heredity in organisms. It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene.
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.
The Personal Genome Project (PGP) is a long term, large cohort study which aims to sequence and publicize the complete genomes and medical records of 100,000 volunteers, in order to enable research into personal genomics and personalized medicine. It was initiated by Harvard University's George M. Church in 2005. As of November 2017, more than 10,000 volunteers had joined the project. Volunteers were accepted initially if they were permanent residents of the US and were able to submit tissue and/or genetic samples. Later the project was expanded to other countries.
George McDonald Church is an American geneticist, molecular engineer, chemist, serial entrepreneur, and pioneer in personal genomics and synthetic biology. He is the Robert Winthrop Professor of Genetics at Harvard Medical School, Professor of Health Sciences and Technology at Harvard University and Massachusetts Institute of Technology, and a founding member of the Wyss Institute for Biologically Inspired Engineering at Harvard. Through his Harvard lab Church has co-founded around 50 biotech companies pushing the boundaries of innovation in the world of life sciences and making his lab as a hotbed of biotech startup activity in Boston. In 2018, the Church lab at Harvard made a record by spinning off 16 biotech companies in one year. The Church lab works on research projects that are distributed in diverse areas of modern biology like developmental biology, neurobiology, info processing, medical genetics, genomics, gene therapy, diagnostics, chemistry & bioengineering, space biology & space genetics, and ecosystem. Research and technology developments at the Church lab have impacted or made direct contributions to nearly all "next-generation sequencing (NGS)" methods and companies. In 2017, Time magazine listed him in Time 100, the list of 100 most influential people in the world. In 2022, he was featured among the most influential people in biopharma by Fierce Pharma, and was listed among the top 8 famous geneticists of all time in human history. As of January 2023, Church serves as a member of the Bulletin of the Atomic Scientists' Board of Sponsors, established by Albert Einstein.
The Institute of Medical Science is an ancillary establishment of Tokyo University. It succeeded the Institute of Infectious Diseases established in 1892 and is the foremost institute for medical and bioscience research in Japan.
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.
Dietrich A. Stephan is an American human geneticist and entrepreneur who works in personalized medicine. Stephan is currently CEO of NeuBase Therapeutics and a General Partner in Cyto Ventures. Before NeuBase, Stephan was CEO of LifeX and Chairman and Professor of Human Genetics at the University of Pittsburgh. Prior, he was founding Chairman of the Neurogenomics Division at the Translational Genomics Research Institute. Stephan has founded or co-founded 14 biotechnology companies and advised many others. Stephan was co-founder of Navigenics, a personal genetics company.
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.
Beijing Institute of Genomics (BIG) is a genomics research center of Chinese Academy of Sciences (CAS).
Rajeev Kumar Varshney is an Indian agricultural scientist, specializing in genomics, genetics, molecular breeding and capacity building in developing countries. Varshney is currently serving as Director, Western Australian State Agricultural Biotechnology Center; Director, Centre for Crop & Food Innovation; and International Chair in Agriculture & Food Security with the Food Futures Institute at Murdoch University, Australia since Feb 2022. Before joining Murdoch University, Australia he served International Crops Research Institute for the Semi-Arid Tropics (ICRISAT), a global agriculture R&D institute, for more than 16 years in different scientific and research leadership roles including Research Program Director for three global research programs– Grain Legumes, Genetic Gains and Accelerated Crop Improvement Program. He has the onus of establishing and nurturing the Center of Excellence in Genomics & Systems Biology (CEGSB), a globally recognized center for genomics research at ICRISAT that made impacts on improving agriculture and development of human resources in several countries including India, China, Kenya, Ethiopia, Tanzania, Nigeria, Ghana, Mali, Senegal, Burkina Faso, etc. Varshney holds Adjunct/Honorary/Visiting Professor positions at 10 academic institutions in Australia, China, Ghana, Hong Kong and India, including The University of Western Australia, University of Queensland, West Africa Centre for Crop Improvement, University of Hyderabad, Chaudhary Charan Singh University and Professor Jayashankar Telangana State Agricultural University.
Robert C. Green is an American medical geneticist, physician, and public health researcher. He directs the Genomes2People Research Program in translational genomics and health outcomes in the Division of Genetics at Brigham and Women's Hospital and the Broad Institute, and is Director of the Preventive Genomics Clinic at Brigham and Women's Hospital. Research led by Green includes clinical and research aspects of genomic and precision medicine, including the development and disclosure of Alzheimer's disease risk estimates and one of the first prospective studies of direct-to-consumer genetic testing services. He has studied the implementation of medical sequencing in healthy adults, newborns, and active duty military personnel. As of 2020, he is leading the first research collaboration to explore return of genomic results and better understand penetrance in a population-based cohort of underrepresented minorities. He has led the Preventive Genomics Clinic at Brigham and Women's Hospital since its creation in 2019.
Personalized medicine involves medical treatments based on the characteristics of individual patients, including their medical history, family history, and genetics. Although personal genetic information is becoming increasingly important in healthcare, there is a lack of sufficient education in medical genetics among physicians and the general public. For example, pharmacogenomics is practiced worldwide by only a limited number of pharmacists, although most pharmacy colleges in the United States now include it in their curriculum. It is also increasingly common for genetic testing to be offered directly to consumers, who subsequently seek out educational materials and bring their results to their doctors. Issues involving genetic testing also invariably lead to ethical and legal concerns, such as the potential for inadvertent effects on family members, increased insurance rates, or increased psychological stress.
Chao-ting Wu is an American molecular biologist. After training at Harvard Medical School in genetics with William Gelbart, at Stanford Medical School with David Hogness, and in a fellowship at Massachusetts General Hospital in molecular biology, Wu began her independent academic career as an assistant professor in Anatomy and Cellular Biology and then Genetics at Harvard Medical School in 1993. After a period as Professor of Pediatrics in the Division of Molecular Medicine at the Boston Children's Hospital, she returned to the Department of Genetics at Harvard Medical School as a full professor in 2007.
Gerardo Jiménez Sánchez is a Mexican-born pediatrician, scientist and businessman. Along with David Valle and Barton Childs, he completed the first medical analysis of the human genome. He was founder and director of the first National Institute of Genomic Medicine in Latin America (INMEGEN) and leader of the team that developed the Genomic Map of the mexican population.
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.
Phylomedicine is an emerging discipline at the intersection of medicine, genomics, and evolution. It focuses on the use of evolutionary knowledge to predict functional consequences of mutations found in personal genomes and populations.
Stephanie J. London is an American epidemiologist and physician-scientist specializing in environmental health, respiratory diseases, and genetic susceptibility. She is the deputy chief of the epidemiology branch at the National Institute of Environmental Health Sciences.
Personalized genomics is the human genetics-derived study of analyzing and interpreting individualized genetic information by genome sequencing to identify genetic variations compared to the library of known sequences. International genetics communities have spared no effort from the past and have gradually cooperated to prosecute research projects to determine DNA sequences of the human genome using DNA sequencing techniques. The methods that are the most commonly used are whole exome sequencing and whole genome sequencing. Both approaches are used to identify genetic variations. Genome sequencing became more cost-effective over time, and made it applicable in the medical field, allowing scientists to understand which genes are attributed to specific diseases.
