Massachusetts General Hospital

The Eichler lab is exploring the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. Clinical research studies have defined disease progression in adrenoleukodystrophy, metachromatic leukodystrophy and Tay Sachs Disease. Read more on Dr. Eichler's website.

Principal Investigator

Florian S. Eichler, MD, PhD

• Assistant Professor of Neurology,
  Harvard Medical School
• Assistant in Neurology,
  Massachusetts General Hospital

Research Scientists

• Patricia Musolino MD, PhD - Post Doc Fellow

Research Assistants & Technicians

• Tracey A.C.M. Suter - Lab Technician
• Ankush Chandra - Lab Technician
• Jessica Pan, Research Coordinator

Updated 10/07/2011

Hereditary Sensory Autonomic Neuropathy, Type1 (HSAN1)

Current research is focused on a novel treatment for the disorder with the amino acid L-serine. Clinical trials indicate that L-serine, taken three times a day, can drastically lower the neurotoxic lipids that are the hallmark of HSAN1. Read more on Dr. Eichler's Harvard.edu website

X-linked Adrenoleukodystrophy (X-ALD)

Our lab studies the ABCD1 gene that is responsible for X-ALD to better understand potential mechanisms of disease onset. Read more on Dr. Eichler's Harvard.edu website

GM2 Gangliosidoses (Tay Sachs)

Our lab is defining the pace and rate of clinical decline in GM2 gangliosidosis in preparation for a first gene therapy trial for this disorder. Read more on Dr. Eichler's Harvard.edu website

Read about and apply for residency, fellowship and observership programs at http://www.massgeneral.org/neurology/education/.

Apply for temporary positions (summer interns)  through the Bulfinch Temporary Service Web site at http://www.massgeneral.org/careers/temporary.aspx. Search for all opportunities using ID# 2200484.

All applicants should register with the Mass General Careers Web site at http://www.massgeneral.org/careers/viewall.aspx. Request a list of current open positions at mghneurology@partners.org.

Updated 10/07/2011

NCBI PubMed Publications - Eichler, FS

NCBI PubMed Publications - Eichler, F

1. Eichler F, Tan WH, Shih VS et al. Proton MR Spectroscopy and Diffusion Weighted Imaging in Isolated Sulfite Oxidase Deficiency. Journal of Child Neurology 2006; 21:801-805.
2. Eichler FS, Ren JQ, Cossoy M, et al. Is microglial apoptosis an early pathogenic change in cerebral X-ALD? Annals of Neurology. 2008; 63(6):729-42.
3. Ratai E, Kok T, Wiggins C, Wiggins G, Grant E, Gagoski B, O'Neill G, Adalsteinsson E, Eichler FS. 7 Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Archives of Neurology. 2008; 65(11):1488-94.
4. Eichler F, Grodd W, Grant E, et al. Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations. AJNR Am J Neuroradiol.  AJNR Am J Neuroradiol. 2009; 30(10):1893-7.
5. Eichler FS, Hornemann T, McCampbell A, et al.  Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipids levels and rescues the phenotype of HSAN1. J Neurosci. 2009; 29(46):14646-51.

Updated 10/07/2011