Michael Shy

Session two: Translational research in adult NMDs

Therapeutic development for the Inherited Neuropathies; a Multidisciplinary, Collaborative Approach

Michael Shy - Wayne State University

Charcot-Marie-Tooth disease (CMT) is the eponym for heritable peripheral neuropathy and is named for three investigators who described it in the late 1800s. CMT affects ~1 in 2500 people (approximately 120,000 Americans) and is among the most common inherited neurological disorders. Despite the clinical similarities among patients with CMT, it has long been realized that the group is genetically heterogeneous. The >50 CMT genes and their proteins constitute a human microarray of molecules that are necessary for the normal function of myelinated axons in the peripheral nervous system (PNS). Investigations of disease mechanisms in the various genetic forms of inherited neuropathies are providing insights into the pathogenesis not only of demyelinating and axonal forms of CMT but of neurodegenerative diseases in general. These investigations have led to the development of rational approaches to therapy including small molecule screens to regulate gene dosage, approaches to regulate intracellular trafficking and attempts to replace mutant proteins. However to ensure that candidate treatments have the best chance to become successful therapies an effective infrastructure needs to be developed. This infrastructure consists of effective laboratory models, reproducible and meaningful outcome measures, and consortia of well trained investigators utilizing the agreed upon outcome measures. This presentation will focus on our approach to develop these treatments and infrastructure for the inherited neuropathies.

Michael Shy

22 Feb 2012