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In genetics, the phenotype is the set of observable characteristics or traits of an organism. The term covers the organism's morphology, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code and the influence of environmental factors. Both factors may interact, further affecting the phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book The Extended Phenotype suggested that one can regard bird nests and other built structures such as caddisfly larva cases and beaver dams as "extended phenotypes".
Endometriosis is a disease of the female reproductive system in which cells similar to those in the endometrium, the layer of tissue that normally covers the inside of the uterus, grow outside the uterus. Lesions can be found on ovaries, fallopian tubes, tissue around the uterus and ovaries (peritoneum), intestines, bladder, and diaphragm; it may also occur in other parts of the body. Some symptoms include pelvic pain, heavy and painful periods, pain with bowel movements, painful urination, pain during sexual intercourse and infertility. Nearly half of those affected have chronic pelvic pain, while in 70% pain occurs during menstruation. Infertility occurs in up to half of affected individuals. About 25% of individuals have no symptoms and 85% of those seen with infertility in a tertiary center have no pain. Endometriosis can have both social and psychological effects.
UK Biobank is a large long-term biobank study in the United Kingdom (UK) which is investigating the respective contributions of genetic predisposition and environmental exposure to the development of disease. It began in 2006.
Genetic discrimination occurs when people treat others differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination. Some legal scholars have argued for a more precise and broader definition of genetic discrimination: "Genetic discrimination should be defined as when an individual is subjected to negative treatment, not as a result of the individual's physical manifestation of disease or disability, but solely because of the individual's genetic composition." Genetic Discrimination is considered to have its foundations in genetic determinism and genetic essentialism, and is based on the concept of genism, i.e. distinctive human characteristics and capacities are determined by genes.
CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB) is a scientific research institute devoted primarily to biological research. It is a part of Council of Scientific and Industrial Research (CSIR), India.
David Benjamin Goldstein is an American human geneticist. Goldstein is founding Director of the Institute for Genomic Medicine at the Columbia University Medical Center, Professor of Genetics and Development and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic.
Eleftheria Zeggini is a director of the institute of translational genomics in Helmholtz Zentrum München and a professor at the Technical University of Munich (TUM). Previously she served as a research group leader at the Wellcome Trust Sanger Institute from 2008 to 2018 and an honorary professor in the department of health sciences at the University of Leicester in the UK.
In genetics, a polygenic score (PGS), also called a polygenic index (PGI), polygenic risk score (PRS), genetic risk score, or genome-wide score, is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype, typically calculated as a weighted sum of trait-associated alleles. It reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. In other words, it gives an estimate of how likely an individual is to have a given trait only based on genetics, without taking environmental factors into account. Polygenic scores are widely used in animal breeding and plant breeding due to their efficacy in improving livestock breeding and crops. In humans, polygenic scores are typically generated from genome-wide association study (GWAS) data.
Jonathan Laurence Marchini is a Bayesian statistician and professor of statistical genomics in the Department of Statistics at the University of Oxford, a tutorial fellow in statistics at Somerville College, Oxford and a co-founder and director of Gensci Ltd. He co-leads the Haplotype Reference Consortium.
In genetics and genetic epidemiology, a phenome-wide association study, abbreviated PheWAS, is a study design in which the association between single-nucleotide polymorphisms or other types of DNA variants is tested across a large number of different phenotypes. The aim of PheWAS studies is to examine the causal linkage between known sequence differences and any type of trait, including molecular, biochemical, cellular, and especially clinical diagnoses and outcomes. It is a complementary approach to the genome-wide association study, or GWAS, methodology. A fundamental difference between GWAS and PheWAS designs is the direction of inference: in a PheWAS it is from exposure to many possible outcomes, that is, from SNPs to differences in phenotypes and disease risk. In a GWAS, the polarity of analysis is from one or a few phenotypes to many possible DNA variants. The approach has proven useful in rediscovering previously reported genotype-phenotype associations, as well as in identifying new ones.
In statistical genetics, linkage disequilibrium score regression is a technique that aims to quantify the separate contributions of polygenic effects and various confounding factors, such as population stratification, based on summary statistics from genome-wide association studies (GWASs). The approach involves using regression analysis to examine the relationship between linkage disequilibrium scores and the test statistics of the single-nucleotide polymorphisms (SNPs) from the GWAS. Here, the "linkage disequilibrium score" for a SNP "is the sum of LD r2 measured with all other SNPs".
Heather Clare Whalley is a Scottish scientist. She is a senior research fellow in Neuroimaging at the Centre for Clinical Brain Sciences, University of Edinburgh., and is an affiliate member of the Centre for Genomic and Experimental Medicine at the University of Edinburgh. Her main focus of research is on the mechanisms underlying the development of major psychiatric disorders using the latest genomic and neuroimaging approaches.
Andrew M. McIntosh is a UK academic psychiatrist. He is Professor of Biological Psychiatry at the Centre for Clinical Brain Sciences, University of Edinburgh, and is an affiliate member of the Centre for Genomic and Experimental Medicine at the University of Edinburgh. The main focus of his research is using genomic and neuroimaging approaches to better understand the causes and causal consequences of Major Depressive Disorder.
The COVID-19 Genomics UK Consortium (COG-UK) was a group of public health agencies and academic institutions in the United Kingdom created in April 2020 to collect, sequence and analyse genomes of SARS-CoV-2 as part of COVID-19 pandemic response. The consortium comprised the UK's four public health agencies, National Health Service organisations, academic partners and the Wellcome Sanger Institute. The consortium was known for first identifying the SARS-CoV-2 Alpha variant in November 2020. As of January 2021, 45% of all SARS-CoV-2 sequences uploaded to the GISAID sequencing database originated from COG-UK.
Deepti Gurdasani is a British-Indian clinical epidemiologist and statistical geneticist who is a senior lecturer in machine learning at the Queen Mary University of London. Her research considers the genetic diversity of African Populations. Throughout the COVID-19 pandemic, Gurdasani has provided the public with her analysis of the evolving situation mainly on the Twitter platform.
Professor Patrick Francis Chinnery, FRCP, FRCPath, FMedSci, is a neurologist, clinician scientist, and Wellcome Trust Principal Research Fellow based in the Medical Research Council Mitochondrial Biology Unit and the University of Cambridge, where he is also Professor of Neurology and Head of the Department of Clinical Neurosciences.
Serena Nik-Zainal is a British-Malaysian clinician who is a consultant in clinical genetics and Cancer Research UK advanced clinician scientist at the University of Cambridge. She makes use of genomics for clinical applications. She was awarded the Crick Lecture by the Royal Society in 2021.
Tara Matise is an American geneticist at Rutgers University. Since 2018, she has served as chair of the Department of Genetics. Her research interests span computational genetics, data science, and human genetics. She is co-director of the Rutgers University Genetics Coordinating Center.
Stacey Ann Missmer is an American reproductive biologist who is a professor at Michigan State University. She was the first faculty member to be appointed under the Michigan State University Global Health Initiative. Her research considers physical and environmental risk factors for endometriosis and infertility.
References
- 1 2 "Krina Zondervan | Fellow by Special Election". St Edmund Hall. Retrieved 26 October 2021.
- 1 2 3 Miller, Laura M.; Johnson, Neil P. (5 January 2017). "EPHect – the Endometriosis Phenome (and Biobanking) Harmonisation Project – may be very helpful for clinicians and the women they are treating". F1000Research. 6: 14. doi: 10.12688/f1000research.9850.1 . ISSN 2046-1402. PMC 5428485 . PMID 28529694.
- 1 2 "Krina Zondervan — Diversity Projects". parking.haiku.fry-it.com. Retrieved 26 October 2021.
- ↑ Zondervan, Krina T.; Becker, Christian M.; Koga, Kaori; Missmer, Stacey A.; Taylor, Robert N.; Viganò, Paola (19 July 2018). "Endometriosis". Nature Reviews Disease Primers. 4 (1): 9. doi:10.1038/s41572-018-0008-5. ISSN 2056-676X. PMID 30026507. S2CID 231984726.
- ↑ "A New Drug Target for Endometriosis Treatment?". Drug Discovery from Technology Networks. Retrieved 26 October 2021.
- ↑ Gibson, Poppy Atkinson (6 September 2021). "Oxford Researchers identify potential break through in endometriosis treatment". The Oxford Student. Retrieved 26 October 2021.
- ↑ Zondervan, Krina; Tapmeier, Thomas; Jones, Victoria (11 September 2021). "Endometriosis: Gene identified which could be potential treatment target". WalesOnline. Retrieved 26 October 2021.
- ↑ "Endometriosis: How new treatment 'changed my life'". BBC News. 9 March 2021. Retrieved 26 October 2021.
- ↑ "Krina Zondervan". World Endometriosis Society. Retrieved 26 October 2021.
- ↑ "Krina Zondervan". The Conversation. 2 September 2021. Retrieved 26 October 2021.
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