Waisman Lecture – Paul Hagerman, MD, PhD – “FXTAS: An Older Face of the Fragile X Gene”

Harry A. Waisman Memorial Lecture

Paul Hagerman, MD, PhD
UC Davis Health System

About the Speaker: Paul J. Hagerman, MD, PhD, is a distinguished professor in the Department of Biochemistry and Molecular Medicine and an investigator at the MIND Institute at the University of California, Davis, School of Medicine. In 1977, he obtained his MD degree, and his PhD degree (Biochemistry), from Stanford University School of Medicine. Hagerman is a molecular geneticist with a principal interest in understanding the basis for neurodevelopmental and neurodegenerative diseases, focusing his research on fragile X-associated disorders. The Hagerman lab has made a number of important observations related to the mechanism of gene expression of the fragile X (FMR1) gene. In 2001, Drs. Paul and Randi Hagerman reported their discovery of a neurological disorder involving tremor and balance problems, which affects “premutation” carriers of the FMR1 gene. Fragile X-associated tremor/ataxia syndrome (FXTAS) is now known to be one of the most common single-gene forms of neurodegeneration (~1/3,000 males over 50 yr in the general population). One year previously (2000), Drs. Tassone and Hagerman discovered that FMR1 messenger RNA is substantially upregulated in carriers of premutation forms of the gene; this form of dysregulation is now believed to underlie the pathogenesis of FXTAS. In the years following, the Hagerman lab helped to identify the molecular processes underpinning the premutation disorders, including FXTAS; such processes include additional features of the “RNA toxicity” model. More recently, in collaboration with Pacific Biosciences, he has pioneered the application of single molecule, real-time (SMRT) sequencing, coupled with single-locus enrichment (SLE) to the study of the microsatellite locus, FMR1, without the need for any form of amplification. This represents the first such study for any microsatellite locus.

Accreditation Statement

In support of improving patient care, the University of Wisconsin–Madison ICEP is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC) to provide continuing education for the healthcare team.

Credit Designation Statements

American Medical Association (AMA)

The University of Wisconsin–Madison ICEP designates this live activity for a maximum of 1 AMA PRA Category 1 Credit™.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Continuing Education Units

The University of Wisconsin–Madison ICEP, as a member of the University Professional & Continuing Education Association (UPCEA), authorizes this program for 0.1 continuing education units (CEUs) or 1 hour.

For Further Information: Contact Teresa Palumbo at 608.263.5837 or palumbo@waisman.wisc.edu

The seminar series is funded by the John D. Wiley Conference Center Fund, the Friends of the Waisman Center and NIH grant U54 HD090256.