Department of Pediatrics / Waisman Center Neurodevelopmental Genetics Faculty Candidate
Jeffrey L. Neul, MD, PhD
Date: Thursday, January 31, 2008
Time: Noon to 1:00
Title: “Rett Syndrome: Knowledge from the Clinic and the Laboratory”
Speaker: Jeffrey L. Neul, MD, PhD
Assistant Professor of Pediatrics
Baylor College of Medicine
About the Talk: Rett Syndrome (RTT, MIM 312750) is an X-linked neurodevelopmental condition characterized by a variety of clinical features, most notably loss of hand use and language between 6-18 months of life. Affected individuals also have prominent hand stereotypes, growth failure, cognitive impairment, autonomic dysfunction and seizures. RTT is caused by mutations in the gene encoding Methyl-CpG Binding-Protein 2 (MECP2), which is believed to function as a transcriptional repressor. Research from both the clinic and the laboratory exploring the genotype/phenotype relationship and the neuroanatomical basis of various features will be presented.
Where: Waisman Conference Center
Room T216, Second Floor, North Tower
For Further Information: Contact Teresa Palumbo at 263-5837 or
palumbo@waisman.wisc.edu
