St George's researchers from the Genetics Research Centre find new gene associated with hereditary spastic paraplegia
Dr Cathy Moore (Postdoctoral Research Assistant) in our I&I Research Institute discusses how parasites have shaped our history.
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Genetics and genomics are vital and cross-cutting topics in a 21st-century biomedical university. St George’s has been expanding this theme, along with the underlying expertise provided by our Bioinformatics Centre. Genetics and genomics research in the MCS Institute includes internationally leading work on the cardiovascular system, notably on sudden death; and the lymphovascular system. Other eminent groups study genetics of tissue overgrowth, pigmentary disorders and skin cancer; mitochondrial disorders (which can affect the brain and heart); muscular dystrophies, developmental disorders, and headache. Molecular-genetic techniques are used to study molecules involved in organelle synthesis and function, DNA replication, cancer drug toxicity and the action of potential novel antibiotics.
Genomics research (on micro-organisms) also takes place in the Institute for Infection and Immunity.
Genetics and Genomics research at St George’s is highly collaborative between the University and St George’s Trust: bench to bedside and back again. Various trust departments collaborate to recruit patients for family studies, DNA analysis and clinical testing based on findings. Main funders include the MRC BBSRC, EC, Wellcome Trust and BHF among others. Associated with this theme are valuable facilities:
Wellcome Trust Functional Genomics Cell Bank (specialising in pigmentary disorders and melanocytes).
Our thriving Lymphovascular Genetics group has already identified several new target genes for inherited disorders of the lymphatic system, research which has helped in diagnosing and managing these patients more precisely. They also study the functions of these genes in the body, which will help us to understand how the defects develop and potentially may lead to new treatments. They are developing a novel imaging method to show the lymphatic system clearly and pinpoint defects.
Principal investigators in this area:
Researchers in the cardiology clinical academic group study many physiological aspects of susceptibility to sudden cardiac death. Complementing that work are a range of studies endeavouring to uncover key gene defects involved in such susceptibility, and to understand their effects on the heart muscle cells. These effects sometimes involve changes in the way electrical signals travel across the membrane of heart cells, giving changes in the heartbeat (ECG pattern). In other cases there are changes in the molecular ‘rivets’ or junctions that attach heart cells to each other. St George’s researchers are analysing how these changes can be diagnosed without having to sample any actual heart tissue.
Heart symptoms can also arise from mitochondrial disorders, as studied in the Genetics Centre. Others are working on the genetics of rare vascular disorders such as Adam-Oliver syndrome and Marfan syndrome.
John Camm (Emeritus)
Physiology, cell biology and genetic manipulation overlap in our research on the normal development and abnormal conditions of several specific cellular organelles. Besides mitochondria and cell junctions as above, interests include the cilium, defects in which lead to a wide range of disorders of embryonic development; the melanosome or pigment organelle found in melanocytes, target for numerous known genetic conditions like albinism, sometimes combined with blood-clotting disorders; and the Weibel-Palade body, an organelle found in blood-vessel lining cells and responsible for initiating blood-clotting.
We have leading expertise in the study of overgrowth syndromes – when cells in certain parts of the body divide too much. Other researchers are studying molecules involved in DNA replication, some of which can become mutated in cancer cells and others of which (topoisomerases), studied in bacteria, may be targets for new antibiotics.
We are a group of six principal investigators and affiliated members from across the university and trust. We study the impact of variation in the genome on disease susceptibility.
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