Posted July 7, 2010
UC Davis School of Medicine Professor of Neurology Ricardo Maselli has received a five-year, $1.6 million grant from the National Institute of Neurological Disorders and Stroke to study congenital myasthenic syndromes (CMS). These inherited disorders, which result from impaired transmission of electrical signals through the neuromuscular junction, can cause profound and sometimes life-threatening muscle weakness.
Maselli will study the molecular basis of the various forms of CMS to develop targeted treatments for these conditions. In contrast with acquired myasthenia gravis, autoimmunity is not involved in the pathogenesis of CMS, therefore immunosuppressive therapy plays no role in its treatment.
Maselli’s laboratory is using high-throughput techniques of DNA sequencing based on microchip technology and is focusing on fundamental signal-transduction pathways actively involved in the development and maintenance of the neuromuscular junction. His laboratory for the first time recently identified a linkage between CMS and a rare genetic disorder causing renal dysfunction. He also is testing the in-vitro effects of a new type of medication for congenital myasthenia.
The UC Davis School of Medicine is among the nation's leading medical schools, recognized for its research and primary-care programs. The school offers fully accredited master's degree programs in public health and in informatics, and its combined M.D.-Ph.D. program is training the next generation of physician-scientists to conduct high-impact research and translate discoveries into better clinical care. Along with being a recognized leader in medical research, the school is committed to serving underserved communities and advancing rural health. For further information, visit the UC Davis School of Medicine website.