Professor Wiebke Arlt is a Consultant Endocrinologist at the Queen Elizabeth Hospital and the William Withering Chair of Medicine and Director of the Institute of Metabolism and Systems Research (IMSR) at the University of Birmingham, UK. She obtained her MD at the University of Cologne, followed by clinical specialist training in Endocrinology & Diabetes at the University of Wuerzburg and postdoctoral training in paediatric and molecular endocrinology at the University of California at San Francisco, CA, USA, before joining the University of Birmingham as an MRC Senior Clinical Fellow in 2004. Professor Arlt’s research focusses on the role of steroids in health and disease, with a translational focus on adrenal insufficiency, adrenal tumours and polycystic ovary syndrome. This closely links to her clinical work as a consultant providing specialist services for patients with adrenal and gonadal disorders. She has published >200 original research articles and has received several major awards.
After qualifying in medicine at Cambridge and Oxford Universities, and general medical training in London, Dr. Chataway specialised in Neurology over an 8 year period with posts in Edinburgh, Cambridge and London. He was awarded a PhD from Cambridge University in genetic epidemiology of multiple sclerosis (MS) and took up his post as a consultant Neurologist in 2001 at St Mary’s Hospital and The National Hospital for Neurology and Neurosurgery, Queen Square. He is now full time at the National Hospital, Queen Square where he is the MS clinical lead and co-leads the Adult onset Leukodystrophy Group (ALG).
In 2012 he had the honour to be the Chief Neurologist to the Olympic Games in London. He is also neurologist to St Luke’s for the Church of England.
James Davison is a Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital where he has a focus on organelle-based metabolic disorders.
He undertook his undergraduate and postgraduate medical and paediatric training in Birmingham/West Midlands UK. He subsequently completed his doctoral research in functional brain imaging in children with metabolic disorders, developing non-invasive brain chemical profiling techniques using quantitative magnetic resonance spectroscopy.
His clinical work at Great Ormond Street Hospital encompasses a broad range of inherited metabolic disorders, and he helps lead on clinical pathways for Pompe disease, Mucopolysaccharidoses and Peroxisomal disorders.
He enjoys cycling, playing the piano and pipe organ, and reading European reformation and Middle Eastern history.
Dr. Eichler is a Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. His career has been dedicated to advancing the care and treatment for devastating neurogenetic conditions. Following neurogenetics training at Johns Hopkins with the late Dr. Hugo Moser and residency in paediatric neurology at MGH, he became the Director of the Leukodystrophy Service that cares for patients with an increasing variety of neurogenetic conditions. Dr. Eichler runs a laboratory at MGH that explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. To develop novel treatments, his laboratory assesses the consequences of gain or loss of function due to disease causing genes. In 2009 the laboratory identified two neurotoxic desoxysphingoid bases that accumulate in mutant transgenic mice and humans with HSAN1. For this work Dr. Eichler received the Wolfe Neuropathy Research Prize from the American Neurological Association. This has further led to a first clinical trial of substrate supplementation therapy for patients with HSAN1. In 2015, he became Director of the Centre for Rare Neurological Diseases at MGH. The Centre aims to eradicate rare disorders of the nervous system by leveraging the power of biological insights towards design and implementation of clinical trials. Dr. Eichler is the principal investigator of several NIH-funded studies on neurogenetic disorders as well as a gene therapy trial of adrenoleukodystrophy that recently reported on first successful outcomes in the New England Journal of Medicine. For this work, he received the Martin Research Prize from MGH and the Herbert Pardes Clinical Excellence Award from the Clinical Research Forum. Dr. Eichler also serves as chair of the Rare Disease Think Tank at MGH and is founder and president of the international consortium ALD Connect, a patient powered research network that is dedicated to curing adrenoleukodystrophy.
Dr Stephan Kemp is a Professor at the Amsterdam University Medical Centers (location AMC), University of Amsterdam, the Netherlands. He was trained as a translational researcher at Johns Hopkins University/ Kennedy Krieger Institute, Baltimore, Maryland, USA and obtained his PhD in 1999 at the University of Amsterdam. Dr Kemp has over 20 years of experience with adrenoleukodystrophy research and published over 80 papers and book chapters on adrenoleukodystrophy. In 1999, together with Dr. Hugo Moser, he initiated the ALD database (www.x-ald.nl), which moved to www.adrenoleukodystrophy.info in 2017. He is scientific adviser of the Dutch ALD patient organisation and the Stop ALD Foundation, member of the scientific board of the European Leukodystrophy Association (ELA) and a member of the board of directors of ALD Connect. Dr Kemp is the project leader of the SCAN study; the pilot for implementing ALD newborn screening in the Netherlands. In 2015, he received the AMC Societal Impact Award (ASIA). His research focuses on lipid metabolism and neurotoxicity.
Dr Robin Lachmann is one of two consultants at the Charles Dent Metabolic Unit, London, UK, where more than 1,500 adult patients with a wide range of inherited metabolic diseases are treated. After qualifying in 1990, Dr Lachmann continued his training in internal medicine and metabolic medicine. He did his PhD research on herpes simplex virus-mediated gene delivery to the brain and post-doctoral work on glycosphingolipid lysosomal storage disorders.
Ming Lim undertook his undergraduate medical training at the Nottingham University. After completing his paediatric neurology training in South London, and a period of doctoral research in the neuroscience department of the Institute of Psychiatry (London), he was appointed as Consultant Paediatric Neurologist at the Evelina London Children’s Hospital; and is a Reader in Paediatric Neurology within Faculty of Life Sciences & Medicine, King’s College London. He has a major interest in childhood inflammatory disorders and runs the regional paediatric brain and spine inflammation service. He works on numerous studies to define childhood central nervous system autoimmune disorders. In addition, he cares for children with a range of neurodegenerative disorders including inherited white matter disorders and has a research interest in the inflammatory mechanisms in neurodegeneration.
Dr John Livingston is a Professor of Paediatric Neurology at the University of Leeds and Consultant Paediatric Neurologist at Leeds Teaching Hospitals. He was the driving force behind the NHS England Inherited White Matter Disorder Patient Service and Registry before retiring in 2022, and is also a Trustee for Alex TLC. From 2014 to 2017 he was President of the British Paediatric Neurology Association.
Dr David Lynch is a consultant neurologist at the National Hospital for Neurology & Neurosurgery at Queen Square, London. He completed his fellowship and PhD in neurogenetics at University College London in 2017. He focuses on the genetics of neurodegenerative diseases, in particular the Inherited White Matter Disorders, or leukodystrophies. He helped to design and now runs the adult division of the UK’s national Highly Specialist Service (HSS) for Inherited White Matter Disorders. This is an expert diagnostic and management service aiming to improve the care of patients living with leukodystrophies across the UK.
Dr Lynch is active in research, particularly on clinical aspects and imaging of leukodystrophies. He edited the forthcoming edition of the Handbook of Clinical Neurology: Inherited White Matter Disorders & Their Mimics, as well as >40 peer reviewed publications and numerous book chapters on the topic. He is the principal investigator on a number of clinical trials for CSF1R-related disorder.
Dr Ann Moser worked alongside her late husband, Dr. Hugo W. Moser for more than 40 years investigating lipid metabolism in inborn errors of metabolism. In 1976 they developed the plasma total lipid VLCFA test for X-ALD. Following Dr. Barbara Migeon’s work to map the X-ALD gene, they were able to clone the gene for X-ALD, ABCD1, in 1993, and developed the ABCD1 mouse model in 1997. Alongside Augusto Odone, father to Lorenzo of the award-winning film “Lorenzo’s Oil”, and together with Dr William Rizzo, they developed Lorenzo’s Oil.
Today, under the leadership of Dr Ali Fatemi, her research team is exploring new ways to treat neuro-inflammation in X-ALD and other nervous system diseases. This team developed, tested, and validated the test methodology for X-ALD new born screening, key to the addition of X-ALD to new born screening programmes in New York, California, Minnesota, Connecticut, Washington, North Carolina and Florida.
Elaine Murphy has worked as a consultant at the Charles Dent Metabolic Unit, based at the National Hospital for Neurology and Neurosurgery, Queen Square since 2008. The unit manages over 1,400 adult patients with rare inherited disorders of metabolism, including adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN). The multidisciplinary team includes nurse specialists, a neuro-psychologist, neuro-physiotherapy, neuro-urology and neuro-gastroenterology. Long term follow up after paediatric bone marrow transplant is arranged with colleagues at University College London Hospital. The unit has a long history of participation in clinical trials of new treatments for rare disorders.
Dr Alasdair Parker trained in paediatric neurology in London and is now a consultant paediatric neurologist at Addenbrooke’s Hospital, Cambridge, where he led the East of England Paediatric Neurology Service 2003-12.
He has launched/led regional video-telemetry, movement disorder, neuromuscular, acute brain injury, ketogenic diet, vagal nerve stimulation and neuro-immunology services. He continues to have a great interest in the epilepsies, tuberous sclerosis, microcephaly, movement disorders and efficient investigation of children presenting with neurological disorders. His main research interests include the identification of genetic disorders in children with neurological disease, microcephaly, and the intractable epilepsies. He holds an associate lectureship at the University of Cambridge, leading in the training of under-graduates, junior and senior doctors within paediatric neurology. He was inaugural Chair of the BPNA education committee and National Training Advisor in Paediatric Neurology 2013-17.
Dr Dipak Ram is a Consultant Paediatric Neurologist in Royal Manchester Children’s Hospital. He is the neurology clinical lead for neurometabolic services in the North West of England. Dr Ram is part of the global MLD initiative (MLDI) network and involved in active research collaboration internationally, including newborn screening for MLD. He leads the NHSE commissioned inherited white matter disorders (IWMD) service in Manchester. Dr Ram is also part of NHS England’s recently commissioned Libmeldy service in the UK, based in Manchester. He is involved in various national and international trials for rare neurodegenerative disorders. As part of his interest in education, Dr Ram is the current National Training Advisor for Paediatric Neurology training in the UK.
Dr Gerald Raymond is a neurologist and clinical geneticist at Johns Hopkins in Baltimore where he is also a professor of paediatrics and neurology. He obtained his MD at the University of Connecticut and was trained in paediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital. He subsequently received additional training in clinical genetics at the Harvard Longwood Program. Dr. Raymond previously has been director of Neurogenetic Research at the Kennedy Krieger Institute and division director of paediatric neurology at the University of Minnesota where he closely collaborated with the metabolic bone marrow transplant group. Dr. Raymond’s research has been at the overlap of genetics and neurology with specific focus on peroxisomal disorders including adrenoleukodystrophy.
Dr Rahul Singh trained in paediatric neurology in London and is now a consultant paediatric neurologist at Guys and St Thomas’ Hospital, Evelina Children’s Hospital, London since April 2015. He specialises in Neonatal and Fetal neurology, Neonatal stroke, Encephalitis/Encephalopathy, Neonatal epilepsies, Channelopathy and also Neonatal Neuromuscular diseases as well as fetal brain malformations. He continues to have interest in inflammatory brain disorders, inherited and acquired white matter diseases in children, IIH and paediatric stroke. He works closely with the white matter disease team and is involved in trials with Opsoclonus Myoclonus syndrome and leads the NHS England Inherited White Matter Disorder Patient Registry and Centre at Guys and St Thomas’. He is postgraduate education lead for neurology trainees and a keen educator, alongside aspiring to spread knowledge of paediatric neurology to the developing world.