International researchers collaborate at Parseghian scientific conference

Author: Marissa Gebhard

Undergraduate Sue Yi at work on NPC in a laboratory

Thirty researchers from universities and institutions around the world are presenting at the 2012 Michael, Marcia and Christa Parseghian Scientific Conference for Niemann-Pick Type C Research June 7 to 9 (Thursday to Saturday) in the Jordan Hall of Science at the University of Notre Dame.

Niemann-Pick Type C (NPC) disease is a rare, fatal neurodegenerative disease for which there is no cure. The disease is an inherited cholesterol metabolism disorder that strikes primarily children before or during adolescence. One in every 150,000 children is affected by the disease with symptoms that include deterioration of memory and balance, lung and liver failure, delayed motor development and seizures. Through research collaboration, progress is being made on treatments for the disease.

Marc Patterson from the Mayo Clinic Children’s Center will be the keynote presenter addressing the seven-decade history of the wide range of treatment techniques that have been developed for patients with the disease. During this time, two genes responsible for the disease were cloned; early diagnosis techniques have continually been developed; existing drugs have been repurposed for NPC patients; and the exploration of disease prevention has been made possible by advances in DNA sequencing.

Michael, Marcia and Christa Parseghian

The three-day conference is split into seven sessions focusing on molecular and cellular biology, diagnostics, new patient treatments, drug discovery, Cyclodextrin and pathological models of NPC. Representatives from the University of Strasbourg, the University of Groningen, the University of Alberta, Albert Einstein College of Medicine, Rutgers University, Columbia University, Weill Cornell Medical College, Stanford University School of Medicine, Scripps Research Institute, the National Institutes of Health and other institutions will share their progress on finding treatments for the disease. Cindy Parseghian, who lost three children to the devastating disease and founded the Ara Parseghian Medical Research Foundation with her husband, Mike, will close the conference with a special presentation.

The conference is made possible through a generous gift to Notre Dame by the Parseghian Foundation, which established the Michael, Marcia and Christa Parseghian Endowment for Excellence to support NPC research and discovery and to build on the Foundation’s commitment to collaborate with young researchers at other institutions. The endowment supports the annual NPC scientific conference that brings together researchers from around the world to share discoveries and progress.

Contact: Marissa Gebhard, 574-631-4465,