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Dr. Eichler continues with the mouse studies and reports some significant developments related to diet and other areas of those studies.

A possible connection between the nerve damage occurring in HSAN1 and that found in diabetes is of great interest and researchers are looking into this.

New genetic mutations have been identified that are associated with an even more severe form of HSAN1. This was documented in a May 2013 article in the American Academy of Neurology in which the joint senior authors are Thorsten Hornemann, PhD, and Mary Reilly, MD, FRCP. Both of these researchers have collaborated with Dr. Brown and Dr. Eichler.

Dr. Vera Fridman recently returned from training in inherited neuropathy in London and has completed a paper on the disease progression and biomarkers in HSAN1. The paper is being submitted for publication.

Dr. Brown is working with a MD-PhD student at UMass who has elected to make HSAN1 the topic of her research. She has made important initial progress towards generating a mouse model of the Deater (C133Y) neuropathy in which the mouse gene will be mutated rather than adding a transgene. The goal is to use recent innovative technologies to study ways to silence the mutated gene.

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