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Building the Rare Disease Research Community:
Columbia University's DISCOVER Program
June 20, 2018 • RecordingPDF

Wendy Chung, MD, Ph.D., 
Kennedy Family Professor of Pediatrics and Medicine
     Columbia University
Moderator: Antonio Molina-Pachon, Ph.D., 
Founder and CEO, GenCo Pharma

Dr. Wendy Chung is a board certified clinical geneticist. She received her MD from Cornell University and her Ph.D. in molecular genetics from Rockefeller University. She is director of the clinical genetics program at Columbia University, a co-director of the molecular genetics diagnostics lab, and heads a research laboratory in the division of molecular genetics investigating the genetic bases for a variety of Mendelian and complex traits.

Dr. Molina-Pachon is an entrepreneur developing solutions for rare diseases and cancer. He is collaborating with the Westchester Biotech Project and international partners to develop a regional hub for researchers who are addressing the most complex, and promising, discoveries. Since 1997 he has held many executive positions, including Director of Discovery, Director of Business Development, CSO, and CEO positions. He has been the founder of 6 companies, all of which are still running today. 

Dr. Chung will give insights into her extensive work identifying new genes linked to rare diseases along with forefront approaches and challenges in the field. She will discuss the rise and application of precision medicine techniques, generation of new data and research models, and the potential for genome-based targeting in advanced treatments.

Gene identification is a critical first step in the development of diagnostics and treatments for diseases, serving both as a marker for diagnostics and as a foundation for understanding mechanisms of action for drug development. Dr. Chung will give insights into best practices in the field, discuss clinical guidelines, and highlight the importance of connectedness between various disciplines within the rare disease community.