RESEARCH
AFFILIATES

Geneviève Bernard, MD, MSc, FRCPC
McGill University Health Center
Montreal, QC (Canada)

Dr. Geneviève Bernard received her Medical Degree (2002) and Master’s degree in Neurosciences (2003) from Université de Montréal. She completed her residency in Pediatric Neurology at McGill University (2008) and her fellowship in Neurogenetics and Movement Disorders at Université de Montréal (2011) under the supervision of Pr. Bernard Brais, Pr. Guy A Rouleau and Dr. Sylvain Chouinard. She started her career as an independent investigator and pediatric neurologist in October 2011 at the Montreal Children’s Hospital of the McGill University Health Center (MUHC) and MUHC Research Institute. She is currently an Assistant Professor at McGill University, in the Department of Neurology and Neurosurgery (and Pediatrics) and a member of the Medical Genetics Department (and Pediatrics) of the MUHC.

Dr. Bernard and her team, together with her international collaborators, discovered the three genes responsible for 4H leukodystrophy and published, in collaboration with Dr. Nicole Wolf and numerous international collaborators, the largest clinical, radiological and genetic characterization study on this disorder. Dr. Bernard published numerous peer-reviewed manuscripts, including some in high impact factor journals (e.g. Am J Hum Genet, Arch Neurol, Mov Disord, Med Genet, Ann Neurol, Neurology, Orphanet J Rare Dis, and Nat Commun), book chapters/course notes and abstracts, and she has been an invited speaker in numerous national and international conferences.

Annette E. Bley, MD
University Hospital Hamburg Eppendorf
Hamburg (Germany)

Dr. Bley is senior physician working at the department of pediatric neurology at the University Hospital Hamburg Eppendorf (UKE). She is trained in Pediatrics and Pediatric Palliative Care. After her medical training in Goettingen and Vienna and pediatric training Dr. Bley’s focus lies since 10 years on studying of and caring for leukodystrophies (Team Dr. Kohlschuetter). In 2009/2010 she joined Dr. Eichler’s research team in Boston. Since 2015 she is head of the Leukodystrophy team at UKE. As a member of the German leukodystrophy research network LEUKONET and the European leukodystrophy research network LEUKOTREAT Dr. Bley contributed to the development of various leukodystrophy databases.

The aim to advance care and treatment options for these devastating diseases lead to different research projects. Most of these research projects are based on the Hamburg leukodystrophy database. Examples are: Study of occurrence of pain in leukodystrophies, effects of HSCT in juvenile MLD or the study of the natural course of Canavan leukodystrophy that is currently continued in cooperation with Dr. Eichler (Boston) and Dr. Lau (New York). Dr. Bley is further interested in investigation of immunological mechanisms of leukodystrophies and the improvement of MRI techniques for leukodystrophies. She cooperates with patient’s organizations and serves on the board of scientific advisors for the European Leukodystrophy Association (ELA), Germany.

Barbara K. Burton, MD
Ann and Robert H. Lurie Children’s Hospital
Chicago, IL (USA)

Dr. Barbara K. Burton is a Professor of Pediatrics at the Northwestern University Feinberg School of Medicine and Clinical Practice Director in the Division of Genetics, Birth Defects and Metabolism at the Ann and Robert H. Lurie Children’s Hospital of Chicago. Dr. Burton is a former President of the Society for Inherited Metabolic Disorders (SIMD) and a former Chairman of the Genetic and Metabolic Advisory Committee of the Illinois Department of Public Health; she currently serves as Chairman of the Lysosomal Storage Disorders subcommittee. She represented the SIMD for four years on the Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. She is also a member of the Medical Advisory Board of several patient advocacy organizations, including Hunter’s Hope, and is a member of numerous North American societies including the American Society of Human Genetics and the American College of Medical Genetics.

Her major clinical and research interests are in the area of inborn errors of metabolism and in newborn screening for metabolic disorders. She has been an investigator on numerous clinical trials of new therapeutics for inherited metabolic disorders, including sapropterin and pegvaliase for PKU, elosulfase alfa for Morquio A Syndrome, idursulfase-intrathecal for MPSII with CNS involvement disease, and sebelipase alfa for lysosomal acid lipase deficiency. She has contributed over 200 articles and chapters to the medical literature, many of them focusing on the diagnosis and treatment of inborn errors of metabolism. In addition, she is the co-editor of a textbook entitled “Congenital Malformations."

samuel gröschel, MD, PhD
University Children’s Hospital Tübingen
Tübingen (Germany)

Samuel Gröschel studied medicine at the University of Göttingen and did his medical thesis there with Prof. Dr. Dr. h.c. Hanefeld about “Virchow-Robin spaces on MRI: observations in healthy and sick children”. The work was supported by the German Research Foundation (DFG) and carried out in Göttingen and at the Institute of Child Health and Great Ormond Street Hospital for Sick Children in London. From 2007 to 2009 he did his pediatric training at the Olgahospital in Stuttgart. Since April 2009 he has been holding a position as research fellow and pediatric and child neurology trainee at the University Children’s Hospital in Tübingen.

His main interests in neuroimaging are leukodystrophies (esp. Metachromatic Leukodystrophy) and the plasticity of the developing brain. Methodologically his research focuses on clinical applications of MR diffusion imaging and tractography of high angular resolution data (HARDI) as well as of advanced morphometric analysis techniques. In 2013, he received the young researcher award from the German Society of Neuropediatrics, and he did his PhD (Habilitation) in 2017 on "Characetrizing White Matter Pathology in the Developing Brain using Magnetic Resonance Imaging".

Richard Leventer, PhD, FRACP
Royal Children’s Hospital
Melbourne, VIC (Australia)

Dr. Leventer is a consultant pediatric neurologist at the Royal Children’s Hospital (RCH) in Melbourne and Group Leader of Neuroscience Research within the Clinical Sciences theme of the Murdoch Children’s Research Institute (MCRI). In addition, he holds an honorary appointment at the Florey Institutes of Neurosciences and Mental Health. He is an Associate Professor in the University of Melbourne Department of Paediatrics. Dr. Leventer was awarded his PhD on the topic of cortical malformations in 2007 which included research commenced whilst doing a Fellowship in the Brain Malformation Program at the University of Chicago under the supervision of Prof. William Dobyns and Prof. David Ledbetter. He was president of the Australia and New Zealand Child Neurology Society from 2002 - 2007. He has authored over 85 peer-reviewed publications and six book chapters.

Dr. Leventer is Director of the RCH/MCRI Brain Malformation Program and Clinic, which is the referral center for children with brain malformations from Australia and New Zealand. He is responsible for a brain malformation database of over 1350 patients, which includes a repository of DNA and brain tissue samples stored within the MCRI. He is a Chief Investigator on the MCRI Accelerated Gene Identification Program within the MCRI Bruce Lefroy Centre. Dr. Leventer’s opinion is widely sought for the review of clinical cases and the interpretation of brain MRI scans of children with brain malformations and other neurogenetic conditions. He is a valued collaborative researcher with colleagues throughout Australia, New Zealand, the USA and Europe. Dr. Leventer is the Australian representative on the international consortium studying white matter disorders, known as the Global Leukodystrophy Initiative. He is a Chief Investigator on two current NHMRC Project Grants on the topics of paediatric leukodsytrophies (APP1068278) and agenesis of the corpus callosum (APP1059666). He is currently supervising two PhD students in the field of neurogenetics.

Sumit Parikh, MD
Cleveland Clinic
Cleveland, OH (USA)

Dr. Sumit Parikh is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program, Director of the Cleveland Clinic Multidisciplinary CDKL5 Syndrome Clinic, Medical Director of the Cleveland Clinic Autism Spectrum Evaluation Team, and a Co-Director of the Cyclic Vomiting Syndrome Program.

His clinical and research interests include the diagnosis and treatment of patients with mitochondrial cytopathies, select inborn errors of metabolism, cognitive and developmental regression, autism, leukodystrophies, epilepsy and developmental delays. He sees pediatric and select adult patients.

Dr. Parikh completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh. He received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh has had the privilege of having Bruce Cohen, Charles Hoppel and Marvin Natowicz serve as his teachers during that time.

He joined the Cleveland Clinic in 2004. Since 2007, Dr. Parikh has been selected as one of "America's Best Doctors."

Deborah L. Renaud, MD
Mayo clinic
Rochester, MN (USA)

Dr. Renaud is a neurometabolic specialist focusing on neurologic manifestations of inherited metabolic disorders, with a particular interest in inherited leukoencephalopathies. She is the Director of the Neurometabolic Clinic and Leukodystrophy Program at the Mayo Clinic in Rochester, MN, which provide comprehensive evaluation and care for adults and children with neurometabolic disorders and inherited leukoencephalopahy. She also co-directs the Mayo Clinic Peroxisomal Disorders Program, a multidisciplinary program for patients with peroxisomal disorders with special emphasis on boys with X-linked adrenoleukodystrophy (X-ALD) as well as men and women with adrenomyeloneuropathy (AMN).

Dr. Renaud is a Fellow of the Royal College of Physicians and Surgeons of Canada in both Pediatrics and Neurology.  She is a Diplomat of the American Board of Pediatrics and is certified in Neurology with Special Qualifications in Child Neurology by the American Board of Psychiatry and Neurology.  More recently, she became certified in Medical Biochemical Genetics by the American Board of Medical Genetics and Genomics. Dr. Renaud is a graduate of the University of Western Ontario where she studied Biology and received her M.D. degree.  She completed residency training in Pediatrics and Pediatric Neurology at the Children’s Hospital of Eastern Ontario in Ottawa and Hospital for Sick Children in Toronto. As a Clinical and Research Fellow in Genetic Metabolic Disorders at Hospital for Sick Children in Toronto, she completed a research fellowship in the Neurometabolics Laboratory.

Raphael Schiffmann, MD, MHSc
Baylor scott and white health
Dallas, TX (USA)

Dr. Raphael Schiffmann specializes in solving diagnostic puzzles concerning neurological disorders of unknown cause. He currently serves as Medical Director of The Institute of Metabolic Disease at Baylor Research Institute. Dr. Schiffmann is Board Certified in Psychiatry and Neurology with Special Qualifications in Child Neurology.

He holds a Master’s degree of Health Sciences in Clinical Research from Duke University in North Carolina, and has completed his medical degree at the University of Liege in Belgium and Pediatrics in Jerusalem, Israel. His research primarily focuses on neurometabolic diseases and in particular lysosomal storage diseases, the leukodystrophies and undiagnosed neurological disorders.  Prior to moving to Dallas, Texas, he was a lead investigator for 17 years at the National Institute of Neurological Disorders and Stroke, Bethesda, Maryland where his work on the leukodystrophies included identification of novel leukodystrophy syndromes such as Childhood Ataxia with Central Nervous System Hypomyelination (CACH; vanishing white matter disease; eIF2B related disease) and 4H Syndrome.Hugo W. Moser Research Institute

He joins an expert team of highly qualified laboratory directors who are available for expert consultation regarding assistance with ordering appropriate tests, interpretation of test results, and recommendations about additional testing. His interests include the mechanism and treatment of neurometabolic genetic diseases such as lysosomal storage disorders, enzyme replacement therapy, and leukodystrophies (genetic diseases affecting primarily the white matter of the brain).