Dr Shortland is a senior clinician and leader with extensive experience in the field or rare diseases. Currently he is supporting and developing the UK-wide strategy for Rare Diseases as previously Chairman, and now member, of the Wales Rare Diseases Implementation Group (RDIG). This includes securing significant funding for a three-year pilot to provide services for patients with rare diseases from Welsh Government through delivery of a novel outpatient clinic service for the whole of Wales, the Syndrome Without a Name Clinic. He is Deputy Chairman, United Kingdom National Screening Committee from 2017 to date. He has also been Executive Medical Director, Cardiff and Vale University Health Board leading a large quartenary/tertiary Health Board (£1.3 billion pound budget) with responsibility for R&D, including first in man trials and a Consultant Paediatrician specialising in Inherited metabolic disease for nearly 30 years in Cardiff, running a regional service. He has published widely in peer reviewed journals. He was awarded an OBE for Services to Paediatrics, Patient Safety and the NHS in Wales, in the Queens Birthday Honours List June 2020.