Postdoc fellowship for the biophysical study of connexin 32 mutations causing Charcot-Marie-Tooth neuropathy

Since mutations in the GJB1 gene that encodes connexin 32 (Cx32) were first reported in 1993, more than 450 different mutations associated with the X-linked form of Charcot–Marie–Tooth disease (CMT1X) have been discovered. A path from genetic diagnosis to personalized treatment is still unavailable, as the molecular mechanisms underlying the disease remain unclear. A new paradigm for the molecular pathogenesis of CMT1X has recently been suggested to be no longer related to Cx32 paired gap junction channels, but rather to unpaired channels (hemichannels), which could mediate ATP-induced ATP release signaling regulating Schwann cell myelination. The objectives of this basic science project are: (i) to provide evidence that Cx32 hemichannel dysfunction underlies CMT1X pathogenesis; (ii) to develop in vitro assays that can be utilized to test candidate therapeutic compounds that will benefit patients affected by different CMT1X mutations.

LOCATION
The selected candidate will work at the Veneto Institute of Molecular Medicine (VIMM, https://www.vimm.it/) in the laboratory of Mario Bortolozzi, where state-of-the-art biological and biophysical facilities are available. The VIMM is an internationally recognized institute with the mission of establishing a close link between basic and clinical research and promoting translational research. The institute is a dynamic and stimulating environment, located in an attractive historical city close to Venice and the beautiful Dolomites Mountains.

QUALIFICATIONS
Application are solicited from candidates holding a master’s degree (or equivalent degree), with at least three years research experience, or a Ph.D. A scientific biophysical background involving fluorescence microscopy and electrophysiology (patch-clamp) is highly preferable. Candidates will also be evaluated based on motivation, flexibility and proved ability to work independently.