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Researchers Converge for Mini-Symposium on CHARGE Syndrome

October 20, 2012

On November 2, 2012, researchers from across the U.S. will gather in the Papadakis Integrated Sciences Building for a mini-symposium on CHARGE syndrome. CHARGE syndrome is a developmental disorder that affects roughly 1 in 10,000 births. Children with the syndrome are often born with serious birth defects, including heart and breathing complications, vision and hearing loss, and cognitive problems. These issues are caused by mutations in a gene called CHD7, which is involved in controlling the expression of many other genes.

This symposium is an exciting milestone on the road to unlocking the mysteries of CHARGE syndrome and other genetic diseases. The aim is to raise the awareness of CHARGE syndrome as a disorder and also to present data on how epigenetics contributes to this disease, and to organ development in general.

Day: November 2, 2012

Time: 9AM – 5PM

Location: Room 103, Papadakis Integrated Sciences Building, 3245 Chestnut St., Philadelphia, PA 19104


  • Donna Martin, M.D., Ph.D. (University of Michigan): Clinical and Research advances of CHARGE
  • Peter Scacheri, Ph.D. (Case Western): Molecular functions of CHD7
  • Brian Brooks, MD, Ph.D. (NEI/NIH): The Genetics of Uveal Coloboma
  • Faith Liebl, Ph.D. (Southern Illinois University): Regulation of synaptic function
  • Robert Hevner, M.D., Ph.D. (University of Washington): Neuropathology in CHARGE Syndrome
  • Kelvin Kwan, Ph.D. (Rutgers University): Chd7 in cochlear progenitor cell differentiation
  • Daniel Marenda, Ph.D. (Drexel University): Neural circuit formation and behavior
  • Special Guest Speaker: Tiina Urv, Ph.D. (Program officer with the NICHD/NIH): Funding mechanisms for rare diseases including CHARGE Syndrome

The event is free and open to the public but is specifically suited to faculty, students and clinicians interested in developmental disorders, epigenetics and development. No RSVP required.

Sponsored by the Department of Biology and the College of Arts and Sciences.