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MG — Pragna Patel

 
Pragna Patel (MG)
Patel and colleagues are working to identify the gene underlying familial myasthenia gravis in an extremely rare family where 10 individuals in two consecutive generations are affected with the disease. Patel's team has narrowed the region where the gene is likely to be located and will use state-of-the-art DNA sequencing methods to identify the responsible gene.
Myasthenia Gravis (MG)

MDA has awarded a research grant totaling $121,139 to Pragna Patel, professor at the Institute for Genetic Medicine, Keck School of Medicine, at the University of Southern California in Los Angeles. The new funds will help support Patel’s research aimed at determining the faulty gene responsible for myasthenia gravis (MG) in a particular family with the disease.

Although MG tends to be sporadic, Patel and colleagues have identified a family in which 10 individuals in two consecutive generations are affected with the disease. The study team has narrowed down the region of DNA in which the gene responsible for these familial, or inherited, cases is likely located; using state-of-the-art technology the team plans to identify not only the gene, but genetic factors that operate in the same cellular pathway or through similar means.

"The typical person with MG has no family history of the disease, thus making it very challenging to identify genes responsible for causing the disease," Patel said. "The knowledge gained from studying the rare family with MG could potentially be used to identify genetic factors that act in the same cellular pathway, or by a similar mechanism, in all or most cases of MG.

Findings from Patel’s study could uncover biological targets at which scientists could aim future therapies.

"MDA funding is vital to our ability to accomplish our goal of finding MG-associated genes," Patel said, noting previous support from the Association has allowed her to conduct a number of studies and add to the collective knowledge pool surrounding MG and also type 1 Charcot-Marie-Tooth disease (CMT1A).

Funding for this MDA grant began February 1, 2011.

‹ MG — Jon Lindstrom up MMD — Araya Puwanant, M.D. ›

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