Board of Directors
After hundreds of medical appointments, my youngest son was diagnosed with Aromatic Amino Acid Decarboxylase deficiency (AADCd), an ultra RARE brain disease. I founded the AADC Trust in 2006 with an expert Medical and Scientific Advisory Board which serves as a lifeline for all AADC families and children through various platforms. The Trust has driven the development of an international database as well as a registry for patients with AADCd and other neurotransmitter diseases. I am an author on the Consensus Guidelines for the Diagnosis and Treatment of AADCd. The Trust has been instrumental in the development of pioneering brain delivered Gene Therapy in several countries for the disease.
The AADC Research Trust is very close to my heart as Jake Flint is family & I am proud to be involved as a director of the charity.I have been involved since we started fundraising for the PND Association before The AADC Research Trust was formed over 12 years ago. Over the years I have taken up several challenges to raise much needed funds for research including the London to Brighton cycle ride, a skydive & various other activities. During the past seven years or so I had been a regular helper at our charity shops which very recently were forced to close. The need to find alternative sources of income & ways of fundraising is proving to be a greater challenge as more & more children worldwide are being diagnosed with AADCd. I shall endeavour to continue with my involvement within the AADC Research Trust & hope that one day soon we will find an effective treatment for this devastating illness.
I initially became involved during the charity’s early infancy after seeing the dramatic effect the disease was having upon Jake & his family, taking up the challenge to fundraise for the PND Association. This included several sponsored London to Brighton cycle rides & other events. When Lisa set up the AADC Research Trust in 2006 I was invited to join as a non-affected director. Since then the challenges have not stopped including helping to set up two charity shops & tea room where my skills as a Building Surveyor were put to full use in the fitting out & dealing with statutory issues such as Planning and Health & Safety. As the numbers of children being diagnosed with AADCd across the world is continually increasing as a result of the relentless research funded by the charity, the fundraising has become even more important & challenging. I hope to continue to assist as long as I am able & capable to make a contribution to this very worthy cause which endeavours to win the battle against this devastating disease & help the affected children & their families.
Professor Simon Heales
BSC, PhD, FRCPath
Medical and Scientific Director
Simon obtained his PhD from Aston University in 1987 and was made a Fellow of the Royal College of Pathologists in 2003. He is the Chief of Service for Paediatric Laboratory Medicine at Great Ormond Street Children's Hospital in London. As well as being Head of Service, he holds the UCL Chair of Clinical Chemistry and has a strong interest in the diagnosis and monitoring of patients with inherited metabolic disorders. This work is underpinned by a number of basic and translational reaserch projects that are carried out in conjunction woth the UCL Ormond Street Institute of Child Health. He has published over 150 papers in the area of mitochondrial, neurotransmitter and lysosomal disorders. Simon is also the Director of the Neurometabolic Unit at the National Hospital Queen Square (UCLH Foundation Trust).
Dr George Allen
George undertook a PhD studentship funded by the AADC Research Trust from 2007 to 2010. Studying at the UCL Institute of Neurology, this work included establishing the plasma AADC enzyme assay as a diagnostic test in the UK. Following this, he performed postdoctoral research at the MRC Protein Phosphorylation Unit working on mitochondrial quality control and Parkinson's disease. He then trained as a clinical biochemist at the Royal Devon and Exeter NHS Foundation Trust, where he currently works.