Anil Mehta

Biography

Dr Mehta is a clinical academic undertaking international research into the children’s disease cystic fibrosis whilst working 50% of his time as a consultant paediatrician with a neonatal medicine/paediatric cardiology interest. His focus is on EU-wide patient care, health outcomes, rare disease policy and better informed policy making. He has tried to improve the welfare of Europeans who suffer because their diseases are very rare in a given hospital setting. This area is a priority for the EU through their forthcoming Rare Disease Directive that will require the NHS to plan care for all rare disease patients (UK to launch end 2013). Past work: Dr Mehta implemented the first comprehensive UK-wide CF patient registry of ~ 7000 patients across 60 NHS CF clinics between 1995 and 2006 and recently developed the first 30,000 patient, 35-country pan-European demographic CF registry, with EU FP6 funding (2006-2009). My translational science focuses on two areas: (1) discovery of a new pathway in CF disease through collaborations in eight  He is an editor of Royal Society of Medicine’s CF Clinical Update Journal (2011-) He developed the European Demographic CF Registry (2006-2009) and now acts as Scientific Lead on European Registry Executive of the European CF Society (2010-).

Research Interest

Background: CMO-Donaldson’s report (2009, ‘rare is common’) commented that millions suffering from rare diseases (RD) remain inadequately treated because healthcare is hospital-centred where RD-patients are too few for large-scale evidence generation. Registries underpinning research are an important part of the solution, and in cystic fibrosis (CF), no comprehensive UK- or Europe-wide clinical registry existed prior to my team’s work (a post-doctoral scientist Dr E. Sims and MD student J McCormick. Throughout, project manager G. Mehta supervised/trained UK-European hospital administrative staff including the EU CF Society registry group).   Screening for Cystic Fibrosis: The prior research demonstrating benefit vs. cost of new born CF screening (Lancet 2007) was incorporated into international screening guidelines of European Governments (e.g. Sweden 2010, Netherlands (2009-10), Germany), CDC Atlanta (US) and those of the European CF Society (ECFS, 2009). My parallel research demonstrating poorer outcomes for female patients with CF diabetes was cited in the clinical care guidelines if the American Diabetes Association (doi: 10.2337/dc10-1768, 2010) and recently, in the Lancet (2010), we reported better CF patient survival in established vs. new EU member states.  UK CF Database (1995-2007; UKCF-Trust Registry thereafter): ~2 million UK-carriers of the CF genetic defect randomly generate thousands of geographically-dispersed CF patients. My team designed and implemented the UK-CF-Database (UKCFD), engineering robust data protection & management protocols ensuring anonymity that drove the research described herein. 7000 CF patients (>40 CF-clinics) were registered at handover to the UK CFTrust. The underpinning research publications facilitated the case to Government for neonatal CF screening by calculating cost-benefit ratios demonstrating less intense drug therapy for a given FEV1 in screened cohortsi. The UKCFD was also applied by others to remotely measure CF-drug toxicities (gut/kidney). In 2007, the UKCFD-data and structure/protocols were embedded into a new registry (www.cftrust.org.uk); now used in NHS commissioning. This registry matches patient disease severity against CF-centre reimbursement for ~10,000 UK patients in 2013 and, its design tracks new, expensive therapies (>£100K p.a. per-patient). CF Pathogenesis: In CF science, a key unanswered question is the pathway by which the CF gene, through defective encoding of the normal version of its protein (called CFTR), causes disease in the human cell membrane. My work proposes a new pathway that lies at the interface of phospho-histidine and phospho-serine, that has implications for cell growth, cell specialisation and nutrient uptake in cells (see Annesley S et al. 2011).  My collaborators and I  hypothesised that the missing amino acid Phe508, deleted from the normal CFTR protein, did not just destroy the misfolded Phe508delCFTR (as is well established), but additionally, pressed a new ‘switch’. This proposed switch is being researched through collaborations in Italy, Portugal and Hungary in 2014 where new grants have been funded for postdoctoral staff scientists to unravel this complex scenario.