Researching Rare Disease Cures

10 24 18 Feature Rare

Ellen Crowe Finan and Deanna Csomo McCool | October 24, 2018

Medicine and patient care for those who have rare diseases is undergoing a revolution, according to John Crowley, chairman and chief executive officer of Amicus Therapeutics and founding board member of Global Genes.

And the first question he posed to researchers, drug companies, and patient advocate groups who gathered in a working session at the University of Notre Dame in October was simple: “What role can Notre Dame and universities play in this revolution?”

A rare disease, by National Institutes of Health standards, is one that affects fewer than 200,000 people in the United States at any given time. Such diseases run the gamut from certain cancers to lysosomal storage disorders including Niemann Pick Disease Type C, which took the lives of three grandchildren of the late Notre Dame Football Coach Ara Parseghian. Patients with rare diseases often experience long roads before diagnosis, and are faced with limited therapeutic options.

The collaborative session, “Accelerating Academic Rare Disease Research and Innovation,” was sponsored by Amicus Therapeutics and drew stakeholders from across the country who discussed strategies for advancing research, bringing new drugs to market, advocating for patients, and disseminating information about rare diseases, among other topics. It was co-chaired by Crowley and Dr. Marshall Summar, division chief and genetics metabolism director of the Rare Disease Institute at Children’s National Health System in Washington D.C., as well as chairman of National Organization for Rare Disorders.

Keynote speaker Dr. James Wilson, director of the Orphan Disease Center and the Gene Therapy Program at the University of Pennsylvania, described how the development of gene therapies disrupted and displaced traditional methods of delivering treatments to patients.  “These therapies were hatched and fermented in academic centers outside of traditional business centers,” he said.

Read more here.

 by Daily Domer Staff

Posted In: Features