Genomics is an interdisciplinary field of molecular 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.
Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 gene. Orthologs are common in other vertebrate species, whereas invertebrate genomes may encode a more distantly related gene. BRCA1 is a human tumor suppressor gene and is responsible for repairing DNA.
BRCA2 and BRCA2 are human genes and their protein products, respectively. The official symbol and the official name are maintained by the HUGO Gene Nomenclature Committee. One alternative symbol, FANCD1, recognizes its association with the FANC protein complex. Orthologs, styled Brca2 and Brca2, are common in other vertebrate species. BRCA2 is a human tumor suppressor gene, found in all humans; its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible for repairing DNA.
UK Biobank is a long-term prospective biobank study in the United Kingdom (UK) that houses de-identified biological samples and health-related data on half a million people. Volunteer participants aged 40-69 were recruited between 2006 and 2010 from across Great Britain and consented to share their health data and to be followed for at least 30 years thereafter with the aim to enable scientific discoveries into the prevention, diagnosis, and treatment of disease.
A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA. Splice site consensus sequences that drive exon recognition are located at the very termini of introns. The deletion of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of abnormal proteins. When a splice site mutation occurs, the mRNA transcript possesses information from these introns that normally should not be included. Introns are supposed to be removed, while the exons are expressed.
Mary-Claire King is an American geneticist. She was the first to show that breast cancer can be inherited due to mutations in the gene she called BRCA1. She studies human genetics and is particularly interested in genetic heterogeneity and complex traits. She studies the interaction of genetics and environmental influences and their effects on human conditions such as breast and ovarian cancer, inherited deafness, schizophrenia, HIV, systemic lupus erythematosus and rheumatoid arthritis. She has been the American Cancer Society Professor of the Department of Genome Sciences and of Medical Genetics in the Department of Medicine at the University of Washington since 1995.
Myriad Genetics, Inc. is an American genetic testing and precision medicine company based in Salt Lake City, Utah, United States. Myriad employs a number of proprietary technologies that permit doctors and patients to understand the genetic basis of human disease and the role that genes play in the onset, progression and treatment of disease. This information is used to guide the development of new products that assess an individual's risk for developing disease later in life, identify a patient's likelihood of responding to a particular drug therapy, assess a patient's risk of disease progression and disease recurrence, and measure disease activity.
Joan Elaine Argetsinger Steitz is Sterling Professor of Molecular Biophysics and Biochemistry at Yale University and Investigator at the Howard Hughes Medical Institute. She is known for her discoveries involving RNA, including ground-breaking insights into how ribosomes interact with messenger RNA by complementary base pairing and that introns are spliced by small nuclear ribonucleic proteins (snRNPs), which occur in eukaryotes. In September 2018, Steitz won the Lasker-Koshland Award for Special Achievement in Medical Science. The Lasker award is often referred to as the 'American Nobel' because 87 of the former recipients have gone on to win Nobel prizes.
LIM domain-binding protein 1 is a protein that in humans is encoded by the LDB1 gene.
Tumor protein D52 is a protein that in humans is encoded by the TPD52 gene.
LIM domain transcription factor LMO4 is a protein that in humans is encoded by the LMO4 gene.
Maxine Frank Singer was an American molecular biologist and science administrator. She was 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.
Krystal Barter is a health activist, author and founder of Humanise Health, A patient-led & advocacy agency working with leading businesses in the health sector who make it their purpose to positively impact lives.
Vanessa Hayes is a geneticist conducting research into cancer genomics and comparative human genomics. She leads a research group at the Garvan Institute of Medical Research in Sydney Australia and holds the Petre Chair of Prostate Cancer Research at the University of Sydney.
Katherine Belov is an Australian geneticist, professor of comparative genomics in the School of Life and Environmental Sciences and Pro Vice Chancellor of Global Engagement at the University of Sydney. She is head of the Australasian Wildlife Genomics Group and research expert in the area of comparative genomics and immunogenetics, including Tasmanian devils and koalas, two iconic Australian species that are threatened by disease processes. Throughout her career, she has disproved the idea that marsupial immune system is primitive, characterized the South American gray short-tailed opossum's immune genes, participated in the Platypus Genome Project, led research identifying the properties of platypus venom, and identified the cause of the spread of the Tasmanian devil's contagious cancer.
Association for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013), was a Supreme Court case, which decided that "a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated.” However, as a "bizarre conciliatory prize" the Court allowed patenting of complementary DNA, which contains exactly the same protein-coding base pair sequence as the natural DNA, albeit with introns removed.
Douglas F. Easton FMedSci is a British epidemiologist who conducts research on the genetics of human cancers. He is Professor of Genetic Epidemiology and Centre for Cancer Genetic Epidemiology at the University of Cambridge. He founded Cambridge's Cancer Research UK Genetic Epidemiology Unit in 1995, and was a Principal Research Fellow there from 2001 to 2011. He is a Professorial Fellow of Homerton College, Cambridge.
Maria Jasin is a developmental biologist at the Memorial Sloan Kettering Cancer Center. She is known for studying homologous recombination, a method in which double-strand breaks in DNA strands are repaired, and for discovering the role of BRCA1 and BRCA2 in cancers.
Jórunn Erla Eyfjörð is an Icelandic molecular biologist and professor emerita at the Faculty of Medicine of the University of Iceland. She is known for her research on breast cancer genetics.
Joni L. Rutter is an American geneticist and director of the National Center for Advancing Translational Sciences (NCATS). Rutter was previously director of the scientific programs in the All of Us initiative and served as the neuroscience and behavior division director at the National Institute on Drug Abuse. Her scientific experience includes clinical research in human genetics and environmental risk factors focusing on the fields of cancer and addiction.
