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Long-standing research led by Prof. O'Rahilly (Department of Clinical Biochemistry) into the genetic and biochemical basis of severe insulin resistance syndromes, has led to improvements in diagnosis and care of patients internationally. These advances have facilitated revision of existing clinical classifications and implementation of novel diagnostic and management algorithms for these conditions. The clinical applicability of this research was recognised in 2011 by the Department of Health-England who have commissioned a national severe insulin resistance service in Cambridge, with support totalling ~£450,000 per annum.
Research by Professor David Brook on inherited disorders has made a major contribution to the human genetics field. The work involved gene identification and mutation detection for genotype/phenotype correlation analysis in patients, which has led to the development of diagnostic tests for inherited conditions including myotonic dystrophy type 1 (DM1), Holt-Oram Syndrome (HOS), and campomelic dysplasia (CD). The tests have benefitted patients in the UK and throughout the rest of the world and in many cases they have been used as the definitive diagnostic measure. The assays developed have also been used in affected families for prenatal diagnosis to enable informed reproductive decisions.
Impact on productivity, the economy and the environment: UK dairy farmers can select the best animals for breeding using analysis of a wide range of traits, leading to improved productivity, greater efficiency and reduced environmental impact, because of UoE research creating a UK Test Day Model (TDM) and an overall Profitable Lifetime Index (PLI)
Beneficiaries: The principal beneficiary is the dairy industry, specifically dairy farmers who are able to generate higher profits. This has benefits for UK consumers and the economy by keeping milk prices lower. The reduction in greenhouse gas emissions associated with more efficient dairy farming practices has global benefits.
Significance and Reach: The genetic evaluation system enabled by the PLI and TDM has resulted in a financial benefit to the UK dairy industry of an estimated £440M over the period 2008-2013.
Attribution: The quantitative genetic research was led by Dr Sue Brotherstone and Professor Bill Hill of the School of Biological Sciences, UoE, with colleagues at Roslin Institute (UoE; UoA6) and SRUC (also returned with UoE in UoA6) as described below.
The International HapMap project was a major international research collaboration to map the structure of common human genetic variation across populations from Europe, Asia and Africa. Mathematical Scientists from the University of Oxford played key roles in the development of statistical methods for the project, along with its overall design and management of the International HapMap Project.
Companies have used HapMap as the primary resource to design genome-wide microarrays to make novel discoveries in, for example, pharmacogenetic studies. The size of this market is estimated at $1.25 billion.
One novel discovery has led to a genetic test that is predictive of sustained viral suppression in patients treated for chronic hepatitis C. An estimated 2.7 to 3.9 million people are affected by HCV infection. This test is sold commercially by the company LabCorp and is a significant contributor to the company's testing volume. Finally, the project has been important in widening the public understanding of genetic variation.
Work by the University of Huddersfield's Archaeogenetics Research Group has been at the forefront of developing mitochondrial DNA as a tool for reconstructing the dispersal history of mankind, from a new model of the expansion of modern humans out of Africa to re-evaluations of the settlement history of Europe, Asia and the Pacific. Pivotal in the emergence of commercial genetic ancestry testing, this work generates immense public interest and creates many opportunities for broad engagement. It has provided an expert basis for TV and radio programmes, featured widely in the mainstream press and helped the Human Genetics Commission formulate guidelines for the genetic ancestry testing industry.
Our research has had impact on the activities of practitioners and their services, health and welfare of patients, on society and on public policy. New diagnostic tests for genetic deafness have been introduced, and healthcare guidelines and professional standards adopted through our investigation of the aetiology of childhood-onset hearing loss. Disease prevention has been achieved by our research on antibiotic-associated deafness, public awareness of risk to health and hearing has been raised, and we have increased public engagement through debate on scientific and social issues. We have also influenced public policy on ethics of genetic testing for deafness with our research resulting in improved quality, accessibility and acceptability of genetic services among many hard-to-reach groups (deafblind, culturally Deaf, and the Bangladeshi population of East London).
African Wild Dogs (Lycaon pictus; referred to as `AWDs' hereafter for brevity) have been classed as endangered by the International Union for Conservation of Nature (IUCN) for 22 years. Large, well-managed captive breeding programmes provide a safety net to restore wild populations. However, the management of the AWD population has been difficult owing to an incomplete family record of captive AWDs, which risks introducing genetic disorders caused by inbreeding. A genetically informed management plan developed by University of Glasgow researchers has provided a genetic measure of diversity and establishes a genetically informed pedigree, which is used in the European Endangered Species Programme for African Wild Dogs. This has introduced a more informed means to manage the captive AWD population, to maintain the genetic diversity of the species across the European zoo network (roughly half the world's captive AWD population), with 53 zoos in 16 European countries (and Israel) currently participating.