Florian S. Eichler MD
Massachusetts General Hospital and Harvard Medical School
Dr. Eichler is an Associate Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. His career has been dedicated to advancing the care and treatment for devastating neurogenetic conditions. Following neurogenetics training at Johns Hopkins with the late Dr. Hugo Moser and residency in pediatric neurology at MGH, he became the Director of the Leukodystrophy Service that cares for patients with an increasing variety of neurogenetic conditions.
Dr. Eichler runs a laboratory at MGH that explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. To develop novel treatments, his laboratory assesses the consequences of gain or loss of function due to disease causing genes. In 2009 the laboratory identified two neurotoxic desoxysphingoid bases that accumulate in mutant transgenic mice and humans with HSAN1. For this work Dr. Eichler received the Wolfe Neuropathy Research Prize from the American Neurological Association. This has further led to a first clinical trial of substrate supplementation therapy for patients with HSAN1. In 2015, he became Director of the Center for Rare Neurological Diseases at MGH. The Center aims to eradicate rare disorders of the nervous system by leveraging the power of biological insights towards design and implementation of clinical trials. Dr. Eichler is the principal investigator of several NIH-funded studies on neurogenetic disorders as well as a gene therapy trial of adrenoleukodystrophy that recently reported on first successful outcomes in the New England Journal of Medicine.
Dr. Eichler also serves as chair of the Rare Disease Think Tank at MGH and is founder and president of the international consortium ALD Connect, a patient powered research network that is dedicated to curing adrenoleukodystrophy.