Posted by Amanda Rickard on Aug 1, 2018
Friends of FSH Research is very glad to welcome Dr. Rabi Tawil to our Scientific Advisory Board (SAB). Dr. Tawil is a neurologist at the University of Rochester Medical Center and a world-renowned FSHD expert. He has published over 80 FSHD-related scientific research articles and holds 10 patents on FSHD clinical trial measures, diagnostics, and best practices for doctors. He serves as both Director of the Neuromuscular Pathology Laboratory and co-Director of the MDA Neuromuscular Disease Clinic at the University of Rochester. We interviewed Dr. Tawil to learn more about his career, his thoughts on FSHD research, and his future role with our SAB.
How does your practice currently serve those affected by FSHD?
Individuals with FSHD represent a large portion of my neuromuscular practice. In addition to patients from the Rochester and Upstate New York area, a number of patients come for a one-time consultation from across the North East. In addition, my long standing involvement in FSHD clinical research has allowed me to see many more patients outside of the clinic. I try to bring this experience to my practice in helping my patients better understand and cope with this disease. Just as crucial is the presence in clinic of a physical therapist with a unique understanding of the needs of individuals with FSHD both from her clinical and research experience.
How did you become so involved in and dedicated to the FSHD field?
When I started my fellowship training in 1991, the initial localization of FSHD to chromosome 4 was just discovered and my mentor, Dr. Robert Griggs, was involved in this research. This is when my interest in FSHD started. As a clinician, you develop a personal bond with your patients, and quitting work on FSHD when research seemed to stall was not an option. I owed it to all the individuals with FSHD who participated in my research to keep going.
What do you hope to achieve as a member of the Friends of FSH Research SAB?
My hope is to bring my clinical research perspective in evaluating the merits of both basic and translational research projects.
As a best guess, what will a future therapy for FSHD look like? What strategy has the best promise right now?
I think the future of therapy for FSHD looks very bright. Preventing expression of DUX4 holds the best promise in attaining a disease-modifying treatment; however, we also need keep an open mind about other strategies.
What is meant by a "disease-modifying treatment"?
Disease-modifying means that a treatment not only slows down progression but stops progression and can result, in at least some muscles, recovery of strength.
The Clinical Trial Network by launching an observational study, as we have recently done, will create sites with unique experience in evaluating patients with FSHD and will therefore be sites that will ready to take on future clinical trials. The National Registry is essential to help recruit patients for clinical trials but also, with its over fifteen years of longitudinal data, can help us understand what happens to individuals with FSHD over time.
Why is it important to gather data on FSHD patients through time?
Data over time helps us better under disease progression and what factors influence it. It is crucial for clinical care and prognostication but also crucial in designing clinical trials.
In your opinion, what is the biggest challenge for FSHD therapeutics development?
The biggest challenge in FSHD therapeutic development is the fact that individuals with FSHD progress as very different rates. This makes early detection of slowing of disease progression difficult when you are comparing individuals on active drug versus placebo.
What roles do you think that both patients and Friends of FSH Research can play in supporting the development of successful therapies?
The participation of patients with FSHD is crucial. The progress made so far would be impossible without the involvement of patients, many of them volunteering for numerous research studies. Friends of FSH research can play a crucial role in therapeutic development by funding preclinical studies to identify new therapeutic targets as well as in supporting registries and the expansion of the network of centers that are trained and ready for upcoming FSHD clinical trials.
We look forward to working with Dr. Tawil to evaluate and fund groundbreaking FSHD research toward a cure or treatment. Learn more about him and the grants that we have previously funded to help support his FSHD work here.