Unwilling to accept the slow pace of progress in Charcot-Marie-Tooth (CMT) drug development, the CMT Research Foundation’s new video series asks and answers the most pressing questions about CMT treatments and how we can deliver them faster.
In this second episode hosted by CMT Research Foundation CEO Susan Ruediger, leading research experts and patient advocates explore how patients can influence the drug development process and be the change that changes everything. Specifically, we discuss how the Cure SMA patient community drove the first treatments for spinal muscular atrophy and how to apply those learnings for CMT; how patients are influencing pharmaceutical companies to start working on CMT that weren’t previously; and how one patient has dedicated his life and career to finding cures.
After watching this video, you will have answers to these questions:
- How can patients drive results forward for drug approvals for CMT?
- What advances and successes in drug development for other neuromuscular diseases like spinal muscular atrophy (SMA) can we apply to CMT? How did the Cure SMA patient community impact the approvals of the first treatments for SMA?
- What is the next potential generation of drugs to treat diseases that currently have no treatments or cures?
- What would treatments for CMT really mean for patients, and how can one person make a difference?
Meet the Experts
Get to know the CMT research experts featured in this video:
Dr. Jill Jarecki, Chief Scientific Officer, Cure SMA
Jill Jarecki, Ph.D., is the chief scientific officer at Cure SMA (spinal muscular atrophy) and has been with the organization since 2005. In this capacity, she has managed a broad portfolio of SMA research investments totaling more than $55 million in basic research, preclinical drug development and clinical research and trials. She has advanced drug development through a pre-investigational new drug meeting at the FDA, designation of orphan disease status from the Orphan Products Office of the FDA, and finally through successful out-licensing for clinical development to an industry partner, all firsts for the SMA field. More recently, she has been engaged in patient-focused drug development activities, including the formation of a seven-member industry collaboration of biotech/pharmaceutical partners within Cure SMA to jointly advance SMA clinical development. Dr. Jarecki received her Ph.D. in genetics from Yale University and completed her postdoctoral fellowship at Stanford University. Prior to working at Cure SMA, she spent five years in the biotech industry at both Vertex Pharmaceuticals and Invitrogen Corporation.
Dr. Raffaella Gesuete, Scientist, DTx Pharma
Raffaella Gesuete has more than 10 years of experience in neuroscience research. She earned her Ph.D. in neuroscience in 2010 in Milan, Italy, before completing her post-doctorate work in Portland, Oregon. During this time, she worked on brain ischemia and neuroinflammation focusing on developing strategies to increase neuroprotection against stroke. She later worked at Vertex Pharmaceuticals, learning about drug development in an industry setting. In 2020, she joined DTx Pharma where she is working on the development of RNA therapeutics for CMT1A.
Gary Donaldson, CMT1X Patient and Community Manager at the CMT Research Foundation
Gary Donaldson spent nearly 20 years trying to understand why his young body wasn’t working the way it should and was continuing to deteriorate. He described daily life as a nightmare he couldn’t escape, feeling alone and mentally and physically exhausted. Finally, at age 32, Gary was diagnosed with CMT1X. As he processed his anger and emotions, Gary promised that he would fight and use his skills and abilities to find a cure for him and his family. Today, Gary is the CMT Research Foundation’s community manager, connecting with others living with CMT and raising funds to speed drug development. Read Gary’s story.