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This case study describes the impact of discoveries by Griffin and Handyside on the universal detection of genetic disease in IVF embryos. The team used basic research to develop practicable new techniques now employed in IVF clinics around the world and culminating in a process named "Karyomapping". The impacts are far-reaching and significant: when applied to families at risk of transmitting genetic disorders the process has resulted in live births of unaffected children. The positive results of the discoveries have extended beyond clinical applications: Adaptations of the technology are now being translated to farm animal breeding regimes to improve meat yields and reduce environmental concerns. Impact also includes new product development and wealth generation, job creation, education, and influence on public policy through HFEA, plus widespread public engagement and communication.
A novel test for prostate cancer was developed from research in mitochondrial genetics conducted at Newcastle University. The Prostate Core Mitomic Test was the first of its kind and is now commercially available in North America. It provides molecular evidence to confirm conventional pathology results showing that men identified as being at risk of prostate cancer are, at the time of examination, free of disease. This is an important patient benefit, as conventional pathology has a 30% chance of missing prostate cancer. The Mitomic test obviates the short-term need for a follow-up biopsy, which is an invasive and very uncomfortable procedure. It is also capable of identifying some men at high risk of having prostate cancer that conventional pathology would miss. The test was introduced to the American market in June 2011 and has generated a multi-million dollar investment and turnover.
Research conducted by Professor TM Cox has led to several advances in the management of lysosomal storage disorders; i) development of miglustat (Zavesca®); now available throughout the world (EMA and FDA approved) for adult patients with Gaucher's disease and throughout the European Union and five other countries worldwide for adult and pediatric patients with Niemann- Pick type C disease, ii) development of the potential successor eliglustat; now in Phase 3 clinical trials, iii) identification of a biomarker for Gaucher's: CCL18/PARC, now incorporated into NHS standard operating procedures for monitoring therapeutic intervention. His pre-clinical research into gene therapy for Tay-Sachs disease also helped establish the NIH-funded Gene Therapy Consortium and gain the FDA's pre-IND approval for clinical trials in 2013, which together have raised public awareness of this disease.