About us

Laura Adang is a child neurologist in the Leukodystrophy Center of Excellence at the Children's Hospital of Philadelphia. Her research is related to clinical trial readiness for metachromatic leukodystrophy and Aicardi Goutières Syndrome. She is involved in clinical trials for both of these leukodystrophies as well. She completed her medical training in pediatrics, child neurology, and a fellowship in pediatric white matter disorders at the Children's Hospital of Philadelphia and University of Pennsylvania. She completed her masters in translational research at the University of Pennsylvania and her PhD at the University of Virginia.

Annette Bley has been working as a pediatrician in the field of leukodystrophies at Kinder UKE since 2007. Since 2015 she is head of the leukodystrophy clinic at Kinder UKE in Hamburg Germany.

As PI of several studies she aims for a better understanding and for better treatment options for leukodystrophies. She did her medical training in Göttingen and Vienna and her pediatric and leukodystrophy training in Aschaffenburg, Rosenheim, Boston and Hamburg.

Jaap Jan Boelens is a Pediatric Hematologist/Oncologist and has served as the Chief of the Pediatric Transplantation and Cellular Therapies Service at Memorial Sloan Kettering (MSK) since 2018. He has a special interest in rare diseases (as indications for Transplantation or Autologous Gene Transduced Transplantation), particularly lysosomal storage diseases, such as Metachromatic Leukodystrophy. He was involved and PI of multiple international studies analyzing short- and long-term outcomes. In addition, he is having an interest in finding strategies to get better disease control (in malignant diseases). His research focuses on the development of advanced therapies made from cord blood that will target blood disorders at the cellular level, including dendritic cell vaccines (anti-AML, anti-Neuroblastoma). He and his team are also creating mathematical models that can help predict how a young person’s immune system will respond to receiving such treatments. Additionally, he is interested in designing a predictable low-toxicity conditioning regimen using PK/PD-models for e.g. ATG (anti-thymocyte globuline), Fludarabine, Clofarabine to better predict immune reconstitution (necessary for optimal effect vaccines).

Francesca Fumagalli has been working as neurologist at San Raffaele Hospital since 2010 and was subsequently trained in child neurology at the same Institute. She is the PI of the MLD natural history study ongoing at SR-TIGET for more than 15 years. She is one of the investigators of hematopoietic stem cell gene therapy clinical trials for MLD developed at SR-TIGET and she was directly involved in the clinical development that led to marketing authorization of Libmeldy.

She is particularly interested in studying prognostic biomarkers and instrumental tools for monitoring disease progression and evaluating efficacy of innovative therapies for MLD.

Sabine Grønborg is a child neurologist and metabolic specialist at Rigshospitalet in Copenhagen with focus on neurometabolic diseases. She did her training in pediatrics and child neurology in Düsseldorf and Göttingen, Germany, as well as in Copenhagen.

Dr. Samuel Groeschel is consultant pediatric neurologist in Tübingen, Germany, with an interest in leukodystrophies. He is PI of the German MLD natural history study and has been investigating MRI changes in MLD. For the latter he received the Young Researcher Award of the German Society for Neuropediatrics in 2013. In Tübingen, he is involved in MLD treatment options like enzyme replacement therapy, hematopoietic stem cell transplantation and gene therapy.

Peter van Hasselt is head of the structured follow up programme for metabolic conditions at the Wilhelmina Children’s Hospital since 2008. The vast majority of patients have been transplanted at the Utrecht center for stemcell transplants, a joint programme of the WKZ and the PMC. Follow up for the leukodystrophies MLD and X-ALD in turn is a joint effort with the Amsterdam UMC. A major research aim of the structured follow up programme is the identification and analysis of weak spots of current care, with the ultimate aim to help create better future care. Peter has been trained in Utrecht and has been part of the metabolic unit at the UMC Utrecht since 2004. He is head of department since 2018.

Carla Hollak is a Professor of Internal Medicine, Inborn Errors of Metabolism in Adults, at the University of Amsterdam, Division of Endocrinology and Metabolism at the Amsterdam UMC. She heads the adult inherited metabolic unit at the Amsterdam UMC. Her research focuses on lysosomal storage diseases and regulatory aspects of orphan diseases. In addition, she is a founder of 'Medicines for Society', which is a platform working on the sustainable availability of drugs for orphan diseases. She is one of the initiators of the MLD initiative.

Tom de Koning is a pediatrician for inborn errors of metabolism with a special interest in neurometabolic disorders such as MLD. He was trained in Utrecht, the Netherlands, being chair of department of metabolic diseases until 2012, he was involved in setting up clinics for follow up of stem cell transplantation in metabolic diseases. He moved to the University Medical Center in Groningen, the Netherlands being PI in neurogenetic and neurometabolic disorders with a focus on movement disorders. He became chair of pediatrics at Lund University in 2019, being actively involved in setting up a center for advanced therapies for neurometabolic disorders.

Caroline Lindemans is a pediatric  immunologist and bone marrow transplant specialist in Utrecht. She has specialised in transplanting the children with a metabolic indication, in close collaboration with the structured follow up program at the WKZ and the neurologists at Amsterdam UMC. In addition, she has a research group with a focus on immunological recovery and transplant outcomes.

Fanny Mochel is an associate professor of genetics at Sorbonne University. She received her MD in Genetics in 2005 at the University Paris Descartes, her PhD in Neuroscience in 2010 at Sorbonne University and is board certified in inherited metabolic disorders. She is chair of the adult section of the Society for the Study of Inborn Errors of Metabolism (SSIEM). Dr Mochel leads the French reference center on Neurometabolic diseases and leukodystrophies in adults at the Pitié-Salpêtrière Hospital, and runs a Neurometabolic research group at the Paris Brain Institute. She conducts clinical research on demyelinating metabolic leukodystrophies (adrenoleukodystrophy, MLD) in adult patients.

Ludger Schöls has been appointed as a professor for clinical neurogenetics at the University of Tübingen since 2004. In the national network “Leukonet” he was in charge of  leukodystrophies in adulthood and takes care of more than 300 adult patients with leukodystrophies. His focus is the genetic characterization and natural history of adult leukodystrophies. In addition, he performs basic research on the pathophysiology of ALSP with induced stem cell models.

Dipak Ram is a paediatric neurologist in Manchester and has a special interest in neurometabolic disorders including white matter disease. His training in paediatric neurology was completed in the United Kingdom. He is involved in national and international clinical trials and supports the neurometabolic service, seeing patients jointly with metabolic physicians in Manchester.

Nicole Wolf has been working as a child neurologist at Amsterdam UMC since 2008 where she is PI for research on hypomyelinating leukodystrophies and metachromatic leukodystrophy. She is involved in setting up and contributing to clinical trials for leukodystrophies, including MLD. She did her training in paediatrics and child neurology in Heidelberg, Germany, and Zurich, Switzerland, where she started clinical research on leukodystrophies in 2000.

Ayelet Zerem has been working as a child neurologist since 2014. She did her training in pediatrics and child neurology in Jerusalem and Holon, Israel. She is the initiator and director of the Leukodystrophy clinic in Tel Aviv Sourasky Medical Center. She is involved in research and in clinical trials for leukodystrophies including metachromatic leukodystrophy.