Content for Families, Carers and Professionals

Scientific Advisory Group

CDKL5 UK is committed to supporting research into the CDKL5 Disorder through the awarding of research grants from charitable funds raised. We hope to be able to support many research projects in the future. The Scientific Advisory Group was created to advise the CDKL5 UK Board on research proposals received, and consists of individuals with a wide variety of experience and expertise.

 Professor John Christodoulou AM MB BS PhD FRACP FFSc FRCPA

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John Christodoulou is a medical graduate of the University of Sydney, and has formal qualifications in paediatrics and medical genetics, with his main current focus of clinical practice being in the diagnosis and management of children with inborn errors of metabolism. He has an active laboratory-based and clinical Rett syndrome research program, as well as in genetic metabolic disorders, including phenylketonuria (PKU) and the mitochondrial respiratory chain (energy production) disorders, and has a strong research interest in the application of next generation sequencing technologies for disease gene discovery in rare Mendelian disorders. He is currently the Director of the Western Sydney Genetics Program, and Professor in the Disciplines of Paediatrics and Child Health, and Genetic Medicine, Sydney Medical School, University of Sydney. In April 2013 he became the Head of the Discipline of Genetic Medicine.

John is a former Past President (2005-2007) of the Human Genetics Society of Australasia, has served on the NHMRC Principal Committee, the Human Genetics Advisory Committee since 2009. In 2010 he became a Member of the General Division of the Order of Australia (AM) for service to human genetics, particularly the metabolic disorders of children, as a researcher and clinician.

Professor Adrian Thrasher PhD MB BS FSB FMedSci FRCP FRCPath FRCPCH

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Adrian Thrasher is Professor of Paediatric Immunology and Wellcome Trust Senior Clinical Fellow at the UCL Institute of Child Health and Honorary Consultant Paediatric Immunologist at Great Ormond Street Hospital for Children NHS Foundation Trust.  

He is the Programme Head of the Infection, Immunity and Inflammation Academic Programme at ICH and has a long standing research and clinical interest in development and application of gene therapy. He is Director of the Clinical Gene Therapy Programme, and Theme Leader of the Gene Stem and Cellular Therapies theme of the Biomedical Research Centre, at  ICH / GOSH.  Adrian is PI on several clinical trials for immunodeficiency and is director of the clinical gene therapy GMP facility, managing a team of trial coordinators, clinical scientists, and quality systems personnel.

Sam Amin MSc MBChB MRCPCH

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Sam qualified in Medicine from the University of Salahaddin in 2000. He has been working in the UK since 2005. He completed an MSc in Stem Cells and Regenerative Medicine at the University of Bristol where he now works as a Senior Lecturer in the Faculty of Medicine and Dentistry. He is also a Research Associate in Paediatrics at the Royal United Hospital, Bath, and a Paediatric Neurology Research Fellow in the University Hospitals Bristol, NHS Foundation Trust.

He has published a number of articles on Tuberous Sclerosis, and is now the main researcher for a randomized, double-blind controlled trial of Metformin in Tuberous Sclerosis Complex, a study which is funded by the National Institute for Health Research (NIHR). He is also the main researcher for an epidemiological study of the perinatal origins of childhood stroke, a study funded by the Stroke Association UK and sponsored by the University of Bristol.  During his clinical work in Bristol, Sam has been involved in the management of a child with a CDKL5 Disorder and is keen to develop a further interest.

Rachel White MBBS DRCOG DFFP

Rachel was born and educated in Bedford, leaving to study Medicine at St Thomas’ Hospital, London in 1983. She graduated in 1988 and resizedimage121151 rachelsubsequently worked in St Thomas’, Ashford and Medway Hospitals until starting her training in General Practice in Sidcup in Kent. Since becoming a GP in 1993 Rachel has always maintained a broad general interest in medicine, now providing holistic primary care with special interests in gynaecology and sexual health, in a large practice in Orpington, Kent.  Rachel also works in Public Health in Bromley as a clinical lead and commissioner in sexual health.

Rachel has developed a strong interest in CDKL5 through her close friendship with Martyn and Teresa Newey. Having seen Ellie grow up with the condition and observed the impact this has had on Ellie and her family, Rachel is committed to ensuring that research funds are used to further the scientific and medical understanding of this disorder and the impact it has on the health, emotional and social needs of sufferers and their families and carers.

Martyn Newey BSc(Hons) MBBS FRCSEd(Orth)

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Martyn completed a science degree in Electronics and Medical Instrumentation at the University of Sussex before studying Medicine at St. George’s Hospital Medical School in London. He has been a consultant orthopaedic surgeon in Leicester since 1998, and is now a spine surgeon with an interest in adult degenerative disorders.

Martyn is a Trustee of CDKL5 UK. His youngest daughter Ellie was diagnosed with CDKL5 in 2010 when she was 13 years old. He has developed his own website about Ellie which also provides information about the history of CDKL5 and current research. Martyn acts as the SAG co-ordinator and is responsible for reporting back to the CDKL5 UK Board.