Stephen J. O'Brien (born 1944) is an American geneticist. He is known for his research contributions in comparative genomics, virology, genetic epidemiology, mammalian systematics and species conservation. Member of the National Academy of Sciences [1] and a Foreign Member of the Russian Academy of Sciences. Author or co-author of over 850 scientific articles and the editor of fourteen volumes.
From 1986 to 2011, O'Brien served as Chief of the Laboratory of Genomic Diversity at the National Cancer Institute (NCI), National Institutes of Health (NIH). In December 2011, he created the Theodosius Dobzhansky Center for Genome Bioinformatics (named after Theodosius Dobzhansky) at St. Petersburg State University, Russia as Chief Scientific Officer. [2]
In January 2013, he joined the Faculty as Professor at the Oceanographic Center, Nova Southeastern University, Ft Lauderdale Florida. [3]
Since November 2019, O'Brien serves as Professor at the Center of Genomic Diversity at ITMO University, St. Petersburg, Russia.
O’Brien received his B.S. in Biology in 1966 from St. Francis College, which presented him with a Distinguished Alumni Award in 1994.[ citation needed ]
In 1971 he earned a Ph.D. in Genetics from Cornell University, which honored him as “Andrew Dixon White Endowed Professor at Large” in 1998.[ citation needed ] At Cornell, he expanded the nascent discipline of biochemical genetics, developing the gene-enzyme maps of Drosophila melanogaster . [4] His biochemical mapping would stimulate his editing of six editions of Genetic Maps: Locus Maps of Complex Genomes (1980-1993) (Cold Spring Harbor Laboratory Publications), [5] international unabridged compendiums of plant, animal, bacteria and virus genetic maps that were prelude to the online NCBI gene mapping databases of species whole genome DNA sequences.
In 1983, he and his collaborators discovered the close genetic uniformity of the African cheetah, a prelude to a new discipline of Conservation Genetics.[ citation needed ] Over three decades of filed studies with his students and colleagues, he subsequently reported over 800 publications, many in the highest rated scientific journals of how genetics could inform and facilitate management action for endangered species. These included identifying new species of elephant, clouded leopard and orangutan plus detailed genetics studies on threatened wildlife species including cheetahs, [6] lions, tigers, giant panda, leopards, pumas, jaguars, koalas, solenodons, and humpback whales.
In 1982, O’Brien's team at the NIH published a comprehensive gene map of domestic cat as cover article in Science [7] and compared genome organization of the cat to human, mouse and other species demonstrating extreme conservation of chromosomal synteny (homologous gene order) between disparate mammalian species. [8] [9] These and subsequent studies established the field of Comparative Genomics. This discipline today remains a baseline for interpreting the organization and evolution of human and established the domestic cat as a genetic model for hereditary cancer and infections diseases in man and animals.[ citation needed ]
In 1996 O’Brien's team described the first human gene to influence HIV-1 infection and AIDS progression, CCR5-Δ32, using population genetic based association analysis. [10] This discovery has led to several HIV entry inhibitor developments that have been approved by FDA as also stimulated the first real cure of HIV-AIDS in the so-called Berlin patient who permanently cleared HIV when infused with CCR5-Δ32/CCR5-Δ32 donor stem cells in 2006. [11] O’Brien's group used similar genetic association studies to invigorate the field of Genetic Epidemiology, describing over 30 AIDS restriction genes and also applying these gene discovery strategies to chronic infectious human diseases including, hepatitis c, hepatitis b (HBV), hepatocellular carcinoma, and nasopharyngeal carcinoma.
In 2009 O’Brien along with David Haussler and Oliver Ryder founded the Genome10K project, [12] an international consortium of genome scientists working to facilitate the whole genome sequencing, assembly and annotation of 10,000 vertebrate species. [13]
In 2009, he was awarded an honorary Doctorate of Veterinary Medicine from the University of Zurich. [14]
O’Brien has had appointments as adjunct professor at thirteen universities: Harvard University, The Johns Hopkins University, Cornell University, Duke University, St Francis University, Peking University-Beijing, University of Maryland, University of Minnesota, Michigan State University, Colorado State University, George Washington University, George Mason University, and Hood College of Frederick. He has mentored more than fifteen Ph.D. students including: Roger Reeves, Dennis Gilbert, Robert Wayne, Cheryl Winkler, Jose Lopez, Melanie Culver, Eduardo Eizirik, Olga Uphyrkina, Carlos Driscoll, Meredith Brown, and Shu Jin Luo in addition to eight M.S. theses and over thirty post-doctoral fellows. Since 1996 he has directed a short course sponsored by The Smithsonian and American Genetics Association, entitled “Recent Advances in Conservation Genetics”, the most recent (2018) edition at Front Royal, Virginia, U.S.A. [15]
In 2018, O'Brien was elected to the National Academy of Sciences. [1] In 2016 O'Brien was elected as a Foreign Member of the Russian Academy of Sciences. He was also elected to the American Academy of Arts and Science, to the Explorer's Club, and to the Cosmos Club.[ citation needed ] He served as President of the NIH Assembly of Scientists, as Chairman of the International Committee on Comparative Gene Mapping for the Human Genome Organization (HUGO). O'Brien founded and co-directs NOAHS (New Opportunities in Animal Health Sciences), a consortium of scientists and apprentices, part of the Smithsonian Institution/National Zoological Park, that works to apply biomedical technology on behalf of species conservation and to training a generation of conservation scientists.[ citation needed ] He has served as the Chairman of the Science Advisory Board for The International BarCode of Life Project [16] and Chairman of the Board of the Cheetah Conservation Fund. [17]
O'Brien is the author or co-author of over 850 scientific articles and the editor of fourteen volumes.[ citation needed ] In 2004 he published a book of science adventure stories entitled “Tears of the Cheetah And Other Tales From The Genetic Frontier” (St. Martin's Pres NYC); [18] in 2007, he published a comprehensive “Atlas of Mammalian Chromosomes”, a photo-compendium of the karyotype of nearly 1000 species of mammals, (John Wiley Inc. NYC). [19] O'Brien has served as Editor of six editions of Genetic Maps: Locus Maps of Complex Genomes (Cold Spring Harbor Laboratory Press); Editor of Journal of Heredity (American Genetics Association) from 1987-2007; Editor for Isozyme Bulletin; Editorial Board Member for GigaScience , Associate Editor for Genomics; Human Genomics, Mammalian Genome, Molecular Phylogenetics and Evolution , and Cosmos.
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly repetitive sequences. Introns make up a large percentage of non-coding DNA. Some of this non-coding DNA is non-functional junk DNA, such as pseudogenes, but there is no firm consensus on the total amount of junk DNA.
Genetic diversity is the total number of genetic characteristics in the genetic makeup of a species, it ranges widely from the number of species to differences within species and can be attributed to the span of survival for a species. It is distinguished from genetic variability, which describes the tendency of genetic characteristics to vary.
Comparative genomics is a field of biological research in which the genomic features of different organisms are compared. The genomic features may include the DNA sequence, genes, gene order, regulatory sequences, and other genomic structural landmarks. In this branch of genomics, whole or large parts of genomes resulting from genome projects are compared to study basic biological similarities and differences as well as evolutionary relationships between organisms. The major principle of comparative genomics is that common features of two organisms will often be encoded within the DNA that is evolutionarily conserved between them. Therefore, comparative genomic approaches start with making some form of alignment of genome sequences and looking for orthologous sequences in the aligned genomes and checking to what extent those sequences are conserved. Based on these, genome and molecular evolution are inferred and this may in turn be put in the context of, for example, phenotypic evolution or population genetics.
David C. Page is an American biologist and professor at the Massachusetts Institute of Technology (MIT), the director of the Whitehead Institute, and a Howard Hughes Medical Institute (HHMI) investigator. He is best known for his work on mapping the Y-chromosome and on its evolution in mammals and expression during development. He was cited by Bryan Sykes in Adam's Curse: A Future Without Men.
C-C chemokine receptor type 5, also known as CCR5 or CD195, is a protein on the surface of white blood cells that is involved in the immune system as it acts as a receptor for chemokines.
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.
Chemokine receptors are cytokine receptors found on the surface of certain cells that interact with a type of cytokine called a chemokine. There have been 20 distinct chemokine receptors discovered in humans. Each has a rhodopsin-like 7-transmembrane (7TM) structure and couples to G-protein for signal transduction within a cell, making them members of a large protein family of G protein-coupled receptors. Following interaction with their specific chemokine ligands, chemokine receptors trigger a flux in intracellular calcium (Ca2+) ions (calcium signaling). This causes cell responses, including the onset of a process known as chemotaxis that traffics the cell to a desired location within the organism. Chemokine receptors are divided into different families, CXC chemokine receptors, CC chemokine receptors, CX3C chemokine receptors and XC chemokine receptors that correspond to the 4 distinct subfamilies of chemokines they bind. Four families of chemokine receptors differ in spacing of cysteine residues near N-terminal of the receptor.
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The He Jiankui affair is a scientific and bioethical controversy concerning the use of genome editing following its first use on humans by Chinese scientist He Jiankui, who edited the genomes of human embryos in 2018. He became widely known on 26 November 2018 after he announced that he had created the first human genetically edited babies. He was listed in the Time's 100 most influential people of 2019. The affair led to ethical and legal controversies, resulting in the indictment of He and two of his collaborators, Zhang Renli and Qin Jinzhou. He eventually received widespread international condemnation.
Brian John Staskawicz ForMemRS is professor of plant and microbial miology at the University of California, Berkeley and scientific director of agricultural genomics at the Innovative Genomics Institute (IGI).
Didier Trono is a Swiss virologist and a professor at the École Polytechnique Fédérale de Lausanne (EPFL). He is known for his research on virus-host interactions and the development of lentiviral vectors for gene therapy.
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