Florian Eichler, MD

Dr. Florian Eichler is a Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. He is also the Katherine B. Sims Chair in Neurogenetics. As Director of the Leukodystrophy Service and Director of the Center for Rare Neurological Diseases (CRND) at MGH, he aims to advance care and treatment for devastating neurogenetic conditions. After completing a neurogenetics fellowship at Johns Hopkins and residency training at MGH, he established a laboratory exploring the relationship of mutant genes to specific biochemical defects and neurodegeneration. The laboratory identified neurotoxic desoxysphingoid bases that accumulate in mutant transgenic mice and humans with hereditary sensory neuropathy type 1 (HSAN1). This work led to a first clinical trial of substrate supplementation therapy for patients with HSAN1. Dr Eichler is also the Co-PI of the gene therapy trial of adrenoleukodystrophy (ALD) that reported on first successful outcomes in the New England Journal of Medicine and received FDA approval in September 2022. For this work, he received the Martin Research Prize from MGH and the Herbert Pardes Clinical Excellence Award from the Clinical Research Forum.

He is a Co-PI of the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a consortium of scientists working to promote advances in the diagnosis and treatment of leukodystrophies, as well as president of the consortium ALD Connect, a patient-powered research network dedicated to curing ALD. He runs several gene therapy trials at MGH, including for Canavan Disease, Tay Sachs and Sandhoff Disease, and Alexander Disease. Recently he became Co-Director of the Precision Therapeutic Unit in the Center for Genomic Medicine at MGH and serves as ad-hoc member on the Advisory Council of NINDS.



Director, Center for Rare Neurological Diseases,

Katherine B. Sims Chair in Neurogenetics, Center for Genomic Medicine, Mass General Hospital;

Professor of Neurology, Harvard Medical School


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