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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.
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.
WEHI, previously known as the Walter and Eliza Hall Institute of Medical Research, and as the Walter and Eliza Hall Institute, is Australia's oldest medical research institute. Sir Frank Macfarlane Burnet, who won the Nobel Prize in 1960 for his work in immunology, was director from 1944 to 1965. Burnet developed the ideas of clonal selection and acquired immune tolerance. Later, Professor Donald Metcalf discovered and characterised colony-stimulating factors. As of 2015, the institute hosted more than 750 researchers who work to understand, prevent and treat diseases including blood, breast and ovarian cancers; inflammatory diseases (autoimmunity) such as rheumatoid arthritis, type 1 diabetes and coeliac disease; and infectious diseases such as malaria, HIV and hepatitis B and C.
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.
Jerry McKee Adams, FAA, FRS, FAHMS, FRSV is an Australian-American molecular biologist whose research into the genetics of haemopoietic differentiation and malignancy, led him and his wife, Professor Suzanne Cory, to be the first two scientists to pioneer gene cloning techniques in Australia, and to successfully clone mammalian genes.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
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.
In genomics, a genome-wide association study, is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms.
The Human Microbiome Project (HMP) was a United States National Institutes of Health (NIH) research initiative to improve understanding of the microbiota involved in human health and disease. Launched in 2007, the first phase (HMP1) focused on identifying and characterizing human microbiota. The second phase, known as the Integrative Human Microbiome Project (iHMP) launched in 2014 with the aim of generating resources to characterize the microbiome and elucidating the roles of microbes in health and disease states. The program received $170 million in funding by the NIH Common Fund from 2007 to 2016.
The Centre for Applied Genomics is a genome centre in the Research Institute of The Hospital for Sick Children, and is affiliated with the University of Toronto. TCAG also operates as a Science and Technology Innovation Centre of Genome Canada, with an emphasis on next-generation sequencing (NGS) and bioinformatics support. Research at TCAG focuses on the genetic and genomic basis of human variability, health and disease, including research on the genetics of autism spectrum disorder and structural variation of the human genome. The centre is located in the Peter Gilgan Centre for Research and Learning in downtown Toronto, Canada.
Neurogenetics studies the role of genetics in the development and function of the nervous system. It considers neural characteristics as phenotypes, and is mainly based on the observation that the nervous systems of individuals, even of those belonging to the same species, may not be identical. As the name implies, it draws aspects from both the studies of neuroscience and genetics, focusing in particular how the genetic code an organism carries affects its expressed traits. Mutations in this genetic sequence can have a wide range of effects on the quality of life of the individual. Neurological diseases, behavior and personality are all studied in the context of neurogenetics. The field of neurogenetics emerged in the mid to late 20th century with advances closely following advancements made in available technology. Currently, neurogenetics is the center of much research utilizing cutting edge techniques.
John Quackenbush is an American computational biologist and genome scientist. He is a professor of biostatistics and computational biology and a professor of cancer biology at the Dana–Farber Cancer Institute (DFCI), as well as the director of its Center for Cancer Computational Biology (CCCB). Quackenbush also holds an appointment as a professor of computational biology and bioinformatics in the Department of Biostatistics at the Harvard School of Public Health.
Marnie Blewitt is head of a division at WEHI, which focuses on X-inactivation, and is engaged in research on the role of polycomb-group proteins in hematopoietic stem cell function.
Alicia Yinema Kate Nungarai Oshlack is an Australian bioinformatician and is Co-Head of Computational Biology at the Peter MacCallum Cancer Centre in Melbourne, Victoria, Australia. She is best known for her work developing methods for the analysis of transcriptome data as a measure of gene expression. She has characterized the role of gene expression in human evolution by comparisons of humans, chimpanzees, orangutans, and rhesus macaques, and works collaboratively in data analysis to improve the use of clinical sequencing of RNA samples by RNAseq for human disease diagnosis.
Peter Propping was a German human geneticist.
Naomi Ruth Wray PhD is an Australian statistical geneticist at the University of Queensland, where she is a Professorial Research Fellow at the Institute for Molecular Bioscience and an Affiliate Professor in the Queensland Brain Institute. She is also a National Health and Medical Research Council (NHMRC) Principal Research Fellow and, along with Peter Visscher and Jian Yang, is one of the three executive team members of the NHMRC-funded Program in Complex Trait Genomics. She is also the Michael Days Chair of Psychiatric Genetics at Oxford University. Naomi pioneered the use of polygenic scores in human genetics, and has made significant contributions to both the development of methods and their clinical use.
Benjamin Michael Neale is a statistical geneticist with a specialty in psychiatric genetics. He is an institute member at the Broad Institute as well as an associate professor at both Harvard Medical School and the Analytic and Translational Genetics Unit at Massachusetts General Hospital. Neale specializes in genome-wide association studies (GWAS). He was responsible for the data analysis of the first GWAS on attention-deficit/hyperactivity-disorder, and he developed new analysis software such as PLINK, which allows for whole-genome data to be analyzed for specific gene markers. Related to his work on GWAS, Neale is the lead of the ADHD psychiatric genetics and also a member of the Psychiatric GWAS Consortium analysis committee.
Alan Frederick Cowman AC, FRS, FAA, CorrFRSE, FAAHMS, FASP, FASM is an internationally acclaimed malaria researcher whose work specialises in researching the malaria-causing parasite, Plasmodium falciparum, and the molecular mechanisms it uses to evade host responses and antimalarial drugs. As of May 2024, he is the deputy directory and Laboratory Head of the Walter and Eliza Hall Institute of Medical Research (WEHI) in Melbourne, and his laboratory continues to work on understanding how Plasmodium falciparum, infects humans and causes disease. He was elected as a fellow of the Royal Society in 2011 and awarded the Companion of the Order of Australia in 2019 for his "eminent service to the biological sciences, notably to molecular parasitology, to medical research and scientific education, and as a mentor."
Paul A. Sieving is a former director of the National Eye Institute, part of the U.S. National Institutes of Health. Prior to joining the NIH in 2001, he served on the faculty of the University of Michigan Medical School as the Paul R. Lichter Professor of Ophthalmic Genetics. He also was the founding director of the Center for Retinal and Macular Degeneration in the university's Department of Ophthalmology and Visual Sciences.
References
- ↑ "Solving the genetics puzzle". www.labonline.com.au. Retrieved 7 April 2022.
- ↑ "About Melanie Bahlo". Facebook. Retrieved 16 August 2016.
- 1 2 "Melanie Bahlo, PhD". The Lowy Medical Research Institute. 20 November 2015. Retrieved 7 April 2022.
- 1 2 "Dr Melanie Bahlo". Victorian Centre for Biostatistics. Retrieved 16 August 2016.
- 1 2 3 "Bahlo Lab: Advancing Genetic Research for Disorders". WEHI. Retrieved 25 July 2024.
- ↑ Powell, Kendall (10 February 2021). "The broken promise that undermines human genome research". Nature. 590 (7845): 198–201. doi:10.1038/d41586-021-00331-5.
- ↑ "New genetic cause of epilepsy found". medicalxpress.com. Retrieved 27 February 2020.
- ↑ "Genetic clue to form of blindness could lead to early diagnosis". ABC News. 28 February 2017. Retrieved 25 July 2024.
- ↑ "King's Birthday 2023 Honours - the full list". Sydney Morning Herald. Nine Entertainment Co. 11 June 2023. Retrieved 11 June 2023.
- ↑ "Academy elects 28 new Fellows". AAHMS - Australian Academy of Health and Medical Sciences. 14 October 2020. Retrieved 7 December 2020.
- ↑ "2009 awardees: Career awards". Australian Academy of Science . Retrieved 16 August 2016.
- ↑ "Anzaas Seminar; Dr Melanie Bahlo "Using Statistics To Find The Causes Of Inherited Diseases"". ANZAAS . Retrieved 16 August 2016.
- ↑ "Professor Melanie Bahlo: Achievements". Walter and Eliza Hall Institute of Medical Research. Retrieved 16 August 2016.
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