Event Detail (Archived)

RNA-mediated Pathways to Disease

  • This event already took place in February 2013
  • Caspary Auditorium

Event Details

Type
Friday Lecture Series
Speaker(s)
Maurice Swanson, Ph.D., associate director, Center for NeuroGenetics, and professor of molecular genetics and microbiology, University of Florida College of Medicine
Speaker bio(s)

Microsatellite instability is associated with nearly 30 hereditary disorders. Disease may result from repeat expansions within a coding region and synthesis of a toxic protein. However, microsatellites located in non-coding regions also cause diseases such as spinocerebellar ataxia types 8, 10 and 12, fragile X-associated tremor ataxia syndrome and myotonic dystrophy. How do simple repeat expansions in non-coding regions result in disease? To answer this question, Dr. Swanson's lab has focused on myotonic dystrophy (DM) because it is a highly variable and dominantly-inherited disorder associated with non-coding expansion mutations in two different genes. The lab proposed the RNA-mediated disease model in which mutant DM1 and DM2 mRNAs are trapped in the nucleus and sequester repeat expansion RNA-binding proteins that are essential for normal tissue development and maintenance. Ongoing efforts are focused on investigating whether RNA toxicity occurs in other neurological disorders.

Dr. Swanson received his Ph.D. in biochemistry in 1979 from the University of California, Berkeley, followed by a postdoctoral fellowship with Gideon Dreyfuss at Northwestern University, where he studied nuclear and cytoplasmic RNA-binding proteins. In 1984 Dr. Swanson was hired as assistant professor in the department of molecular genetics and microbiology at the University of Florida College of Medicine, where he has been professor since 2001 and associate director of the Center for NeuroGenetics since 2010. Dr. Swanson has received numerous honors, including being an established investigator for the American Heart Association from 1997 to 2000, and receiving a University of Florida Research Foundation Professorship Award from 2004 to 2006 and again from 2011 to 2013 and several Exemplary Teacher Awards from the University of Florida.

Open to
Public
Host
Bob Darnell
Reception
Refreshments, 3:15 p.m. - 3:45 p.m., Abby Lounge
Contact
Gloria Phipps
Phone
(212) 327-8967
Sponsor
Gloria Phipps
(212) 327-8967
phippsg@rockefeller.edu