Team

Maya Tchikviladze is a neurologist trained at Tbilisi State University (Georgia) and at Pitié-Salpêtrière Hospital, where she served as medical head of the Clinical Investigation Center (CIC). She has worked at Foch Hospital, with expertise in white matter disorders of the brain as well as neurovascular diseases. She joins part-time the Adult Leukodystrophies and Adult Neurometabolic CRMR, as well as the MIND team at the ICM. She also holds a diploma in acupuncture and is Associate Professor of Neurology at ALTE University (Tbilisi) since 2025.

Bernardo Blanco has scientific training in molecular mechanisms of rare white matter diseases. He oversees and manages the clinical and research activities of the reference center for Adult Leukodystrophy, both at the local and national level, in close collaboration with the reference center’ partners.

Camille Huiban’s role is to assess cognitive function using standardized neuropsychological assessment. She evaluates patients as part of clinical care as well as  IGNITE and CALDIFF clinical trials.

Valérie Gaudin specializes in diets dedicated to inherited metabolic disorders. She is part of the dietitian working group of the French Society of Inborn Errors of Metabolism (SFEIM). Ms. Gaudin is responsible for the dietary monitoring of patients treated with triheptanoin, a medium chain triglyceride with innovative energy properties. She is also an instructor for the Ketogenic Diet patient education program.

Manon Robert takes care of the psychological needs of patients and caregivers. She is involved in the presymptomatic diagnosis process for individuals at risk of inheriting mutations causing leukodystrophies,. Ms. Robert participates in clinical trials and teaches university tutorials in clinical psychopathology focusing on the studies of neuropsychiatric diseases.

Elodie Schaerer is a member of the neurogenetic reference center and addresses genetic counseling for patients with leukodystrophies and their families. Ms. Schaerer is an instructor for the adrenoleukodystrophy patient education program. She is involved in teaching activities and is a member of the French Association of Genetic Counselors.

Samira Ouamkal provides first guidance and administrative support for patients with leukodystrophies.

Imen Dorboz has scientific training in the identification of genetic mutations causing leukodystrophies. In particular, she identifies new genes responsible for POLR3K and NKX6 related leukodystrophies.

Ms. Dorboz  is involved in university teaching activities in neuropediatrics as well as science popularization for patients and families affected by leukodystrophies. She is also an instructor for the Leucomot patient education program.

Anaïs Bernatas is a specialized coordinating nurse, who helps to coordinate the patient care pathway in the reference center for rare diseases, specifically leukodystrophy. From the initial diagnosis to treatment related to research or bone marrow transplantation, she supports patients and their families in their specialized follow-up.

Irene García Ramos is a Clinical Research Study Coordinator at the Adult Leukodystrophies Reference Center. Her role involves coordinating all interventional and observational clinical studies conducted within the center. She collaborates with the hospital departments involved in patient care (genetics, neurology, hematology, etc.) as well as with partner laboratories and biotechnology companies.

Anne Marie Mukundwa is a Clinical Research Study Coordinator at the Adult Leukodystrophies Reference Center. She coordinates clinical research studies in collaboration with several departments at Pitié-Salpêtrière hospital and the research platforms of the Paris Brain Institute. She is managing drug supply processes and biobanking activities within clinical studies.

Diane Yonta is a Clinical Research Associate within the Adult Neurometabolic and Adult Leukodystrophies Reference Centers. She contributes actively to the centers’ clinical research programs and coordinates the implementation of standardized patient assessments in routine care. She is also responsible for the documentation of team activities to support comprehensive annual reporting for both CRMRs.

Hemmo Yska is a medical doctor – clinical researcher, originally from the Netherlands. He holds a PhD in pediatric neurology, which focused on the disease adrenoleukodystrophy. At the Paris Brain Institute, he primarily focuses on clinical research and the use of (research) MRI in leukodystrophies, with special attention for adrenoleukodystrophy and CSF1R-related disorder.

Foudil Lamari is an Associate Professor of Biochemistry at Paris Cité University and Paris-Saclay University. He heads the Unit for Biochemistry of Neurometabolic and Neurodegenerative Diseases at the Pitié-Salpêtrière University Hospital. His expertise focuses on the biochemical diagnosis of neurometabolic and neurodegenerative diseases, as well as the development of innovative biomarkers.

Giulia Dingeo is a clinical biologist in the Metabolic Biochemistry Department of the Pitié-Salpêtrière University Hospital, within the Unit for Neurometabolic and Neurodegenerative Diseases. In collaboration with the Adult Leukodystrophy Reference Centre, she develops biomarkers for the diagnosis of peroxisomal diseases and disorders of sterol metabolism. She also develops and validates new analytical methods.

Damien Galanaud is Professor of Medical Radiology at Sorbonne University and a consultant radiologist in the Neuroradiology Department of the Pitié-Salpêtrière University Hospital Group. He is affiliated with the Biomedical Imaging Laboratory at Sorbonne University and develops MRI techniques for white matter imaging. He co-leads multidisciplinary imaging meetings for the Adult Leukodystrophy Reference Centre and the Adult Neurometabolic Reference Centre.

Marianne Golse is a neuroradiologist in the Neuroradiology Department of the Pitié-Salpêtrière University Hospital. She is affiliated with the Biomedical Imaging Laboratory at Sorbonne University and the MIND team at the Paris Brain Institute (ICM). She develops quantitative imaging markers for the study of myelin for prognostic and therapeutic purposes.

Stéphanie Nguyen Quoc is a Professor of Hematology at Sorbonne University and the head of the Stem cell transplantation program in the Department of Hematology at the Pitié-Salpêtrière University Hospital. She oversees the care pathway of patients with leukodystrophies followed within the Adult Leukodystrophy Reference Centre who are eligible for hematopoietic stem cell transplantation, in close collaboration with the network of French transplant centers.

Nathalie Miranda is a transplant nurse coordinator for hematopoietic stem cell transplantation within the Hematology Department of the Pitié-Salpêtrière University Hospital Group. She works closely with Professor Nguyen and Anaïs Bernatas to implement transplants in patients with leukodystrophies followed within the Reference Centre.