Profile Category: Consortium

Marjo van der Knaap, MD, PhD
Profiles

Marjo van der Knaap, MD, PhD

Marjo van der Knaap is an adult and pediatric neurologist at Amsterdam UMC since 1991. She is head of pediatric neurology. In 2000 she founded the Amsterdam Leukodystrophy Centre, where patient care is combined with fundamental, translational and clinical research. In 1995 she first described MLC. In 2001 her group found the first gene associated with MLC: MLC1. In 2010 she described remitting MLC. In 2011 her group and the group of Raul Estévez published a collaborative paper on the identification of the second gene associated with MLC: GLIALCAM. In 2023, she and Rogier Min published AQP4 and GPRC5B as novel genes associated with MLC. Together with Rogier, she continues to work on MLC pathophysiology and therapy targets. In 2023, she initiated an international consortium of clinical experts for MLC (the MLC consortium) aiming at trial readiness and started an MLC patient registry.

Geneviève Bernard, MD, MSc, FRCPc
Profiles

Geneviève Bernard, MD, MSc, FRCPc

Dr. Geneviève Bernard is a pediatric neurologist and an associate professor at McGill University. She leads the largest leukodystrophy clinic in Canada and has experience conducting clinical trials for various neurodegenerative disorders, including the leukodystrophies. Since starting her career as a clinician-scientist in 2011, she has built a comprehensive leukodystrophy research program. Her work combines both clinical and bench research to characterize these disorders from a clinical, genetic, and molecular perspective, with a special focus on hypomyelinating disorders, including POLR3-related (4H) and EPRS1-related leukodystrophy.

Ali Fatemi, MD, MBA
Profiles

Ali Fatemi, MD, MBA

Dr. Ali Fatemi is a pediatric neurologist and the Chief Medical Officer at Kennedy Krieger Institute and a professor of neurology and pediatrics at Johns Hopkins University. Dr. Fatemi’s career has focused on the study of leukodystrophies and providing care to affected patients and has extensive experience with clinical trials engaging with all stakeholders within the leukodystrophy community.

Francesco Nicita MD, PhD
Profiles

Francesco Nicita MD, PhD

Francesco Nicita is a pediatrician trained in Pediatric Neurology, working at the Unit of Neuromuscular and Neurodegenerative Disorders of the Bambino Gesù Children's Research Hospital in Rome, Italy. His main area of interest are rare pediatric-onset neurogenetic disorders, especially leukodystrophies, hereditary spastic paraparesis and ataxias. He is involved in the diagnosis, care and clinical trials of children with these conditions.

Paulo Sgobbi, MD, PhD
Profiles

Paulo Sgobbi, MD, PhD

Dr. Paulo Sgobbi is an adult neurologist and affiliate professor at Federal University of São Paulo and Medical Director of PSEG Clinical Research Center located at São Paulo, Brazil. He has a  PhD in Neuroscience in the area of genetics of juvenile forms of Amyotrophic Lateral Sclerosis and non-5q Spinal Muscular Atrophies. His main area of interest is inherited neuromuscular and neurodegenerative disorders like leukodystrophies, hereditary spastic paraplegia and motor neuron disorders. He is involved in the diagnosis, care and clinical trials of pediatric and adult patients with neurological disorders.

Jigyasha Sinha, MD
Profiles

Jigyasha Sinha, MD

Dr. Jigyasha Sinha is a Consultant Pediatric Neurologist at Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, India. She leads the department of Pediatric Neurology at the hospital’s Centre for Children. Prior to that she was the Head and Consultant in the Department of Pediatric Neurology at the Institute of Neurosciences, Kolkata. She was involved in a white matter disorder project in Amsterdam under the supervision of Prof. Van der Knaap and Prof. Nicole I Wolf. Her area of interest lies in leukodystrophies, particularly MLC, hypomyelination and movement disorders.

Pınar Topaloğlu, MD
Profiles

Pınar Topaloğlu, MD

Dr. Pınar Topaloğlu has been working as an adult and pediatric neurologist at Istanbul University, Department of Neurology/Division of Child Neurology, Istanbul, Turkey since 2010. She is interested in leukodystrophies (especially MLC and those with mitochondrial origin) and epilepsy. She was involved in an MLC project in Amsterdam under the supervision of Prof. Van der Knaap in 2015. She continues her studies around leukodystrophies some of which were published in 2018 and 2021.