Team

Dr. Goujon works in both reference centers for Adult Leukodystrophy and hereditary Neurometabolic diseases at the Pitié-Salpêtrière Hospital. She is co-investigator of the clinical research projects ARISE (dedicated to adrenomyeloneuropathy in women), IGNITE (clinical trial for CSF1R-leukodystrophy) and CALDIFF (early diagnosis study of the cerebral form of adrenoleukodystrophy in men). She is part of the “Immunity, Metabolism and Neurodegeneration” research team and is currently working on a preclinical gene therapy project on PLP1-leukodystrophy.

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.