Progress Update: Young Investigator Travel Grants

Research Associate, Harper Lab
Gene therapy Postdoctoral representative in RITA
Center for Gene Therapy, Nationwide Children’s Hospital

As a recipient of travel scholarship from Friends of FSH, I am submitting this report on how I benefited from attending the 2019 IRC. First of all, it was very pleasant for me to participate in this International scientific meeting in such a great historical site with an astonishing view.

Most of presented subjects were so interesting and informative. First day Dr. Tapscott presented very exciting info about DUX4 expression and correlative consequences on the organism immunity. Also Dr. Greco’s presentation about relation between oxidative stress and DUX4 expression. Second day I found interesting to use ultrasound as a muscle pathology outcome measure which presented by Dr. Engelen. I got very good feedback refer to my poster presentation and of course honored to be recognized as a sole prize winner of the poster presentations.

I just tried to be as brief as possible otherwise it was a lot of important issues which delivered during the meeting. Also I am thankful to Friends of FSH for supporting us to participate in this valuable meeting.


Lindsay Wallace, PhD
The Abigail Wexner Research Institute at Nationwide Children’s Hospital

I would like to thank the Friends of FSH Research, for sponsoring the scholarship that allowed me to travel to the FSH International Research Consortium in Marseille, France. I have been attending this meeting since 2008 and it is amazing how the scope has changed. The scale is much larger, the research is becoming more diverse, there is more industry involvement, and importantly a focus on translation. I found it extremely beneficial to start the meeting with the 2 patients sharing their stories. It ads perspective and gets everyone goal oriented before we are immersed in data. This was an exciting addition to the meeting.

Overall, there were 2 packed days of intensive data. For this reason alone, I benefited from attending the meeting. I was able to present my data on a therapeutic miRNA we have been developing, and got some interesting suggestions.  However, as a researcher actively trying to get a therapeutic to a clinic setting, what I found most beneficial was the collection of talks centered around clinical trial readiness.  There were some great talks on outcome measures, discussions on the best or most consistent imaging methods, and few talks focused on the clinical presentations of children. In addition, I got to meet two of our collaborators face to face for the first time. The technological world is many times convenient but “faceless” so I am grateful to this meeting for gathering so many FSH researchers consistently from year to year as well as having the opportunity to attend.


Afrooz Rashnonejad, Ph.D.
Postdoctoral fellow, Harper Lab
Postdoctoral Officer in RITA
Center for Gene Therapy, Nationwide Children’s Hospital

As a recipient of travel scholarship, I am submitting this report on how I benefited from attending the 2019 IRC. I would like to mention that it was great to hear a new GLOBAL program for annual IRC meeting that will lead to increase participation of those researchers who leave outside of the USA. Along with a beautiful city and location selected for this meeting, there was some new aspects added to the meeting that made it different from last year meeting. One of them was a “historical perspective on FSHD” presented by Professor Michel Fardeau. Another new/useful presentation was “High frequency of keratinocyte-related skin diseases in FSHD” presented by Dr. Sabrina Sacconi. We see this phenotype in mouse models but there was a little knowledge in this regards from patients. In mouse model, researchers mostly thought it might be a side effect of transgenic mice production but now we are more careful about other symptoms like appearance of skin diseases along with muscle weakens in FSHD patients. This demonstrates necessity of different kind of treatment for same disorder and most be added to the list of the symptoms to help better diagnosis. There was some good presentation about genotype-phenotype correlation in FSHD that was really useful for me and other researchers. I specially benefited from communication with the other researchers during breaks and lunches.

Annual FSHD IRC meeting is the most important meeting for me to participate. It was my second time participating in annual IRC meeting. I always was so excited for participating to annual IRC meeting because I am working on gene therapy for this disease and specially using cutting edge approaches mixing AAV with CRISPR and I would like to get other researchers feedback on my work. I was super happy when I got an email mentioned that my work was selected for an oral presentation but after few days I got another email that asked my understanding to accept poster presentation instead of oral presentation because of the limitation in the time. They mentioned they received lots of abstracts this year and because I presented this work in MDA meeting a poster presentation would be enough for this work in 2019 IRC. I immediately accepted because I thought might there is lots of new studies do not presented anywhere else and I will learn a lot during meeting from these presentations. But, during the 2019 IRC meeting, I found that the group of audience was completely different from those in MDA that it would be very nice if I could have presented my work there. Also, there were several repetitive research studies that were presented for many years not only in this meeting but also in other meetings. Unfortunately, I should say it was the only thing that discouraged me a little.

At the end, I would like to thank the Friends of FSH Research foundation for supporting me with the travel award for participating in this important meeting. This meeting gave me a valuable overview about the latest discoveries on FSHD as well as advances in preclinical and clinical research. I made new friends and colleagues for our future collaborations. I discussed my projects with some leaders in the field and got new suggestions to improve my work.


Nizar Saad, PhD
Scott Harper Laboratory
Nationwide Children’s Hospital

I would like to thank Friends of FSH Research for giving me the opportunity to attend the 26th FSHD international research congress that was held in Marseille, France during the month of June.

As a postdoctoral fellow funded by the FSH Society, this event was a great opportunity to share and discuss my latest research with the scientific community working on FSHD. During the congress, I benefited from the wide spectrum of presentation ranging from the basic understanding of FSHD disease to the development of clinical trials. I particularly appreciated the focus on clinical readiness and the emphasis on defining the best clinical outcomes in order to have successful clinical trials. The presence of patients at the meeting, and hearing their day to day struggle was inspiring and motivating. I always encourage this kind of patient – scientist interaction as it allows us (the scientists) to refocus our efforts to what really matters, which is finding a cure to FSHD.

On the other hand, I am always excited to share my research at the FSHD IRC because it’s a great opportunity for me to increase the visibility of my work, and to expand my network of professionals, which could pave the way for the establishment of new collaborations. As an example, through this congress, in the past, we collaborated with a clinician working on FSHD, and were able to expand our library of human primary muscle cell lines on which we are now conducting a research project aiming to search for new gene modifiers of FSHD.

Finally, the FSHD IRC is always an opportunity to learn about the latest research and therapies on FSHD, which will bring research together for the better understanding of the disease and for the development of efficient therapies.


Rika Maruyama, Ph.D.
University of Alberta

2019 FSHD International Research Congress was held at Phalais Du Pharo in Marseille, France on June 19-20, 2019. The focus of the conference is recent topics on FSHD research, including molecular mechanisms, therapeutic interventions, natural history, and clinical evaluation. I was very pleased with my conference attendance and learned recent progress of FSHD research.

I presented our work at Platform Session 9 “Therapeutic intervention”. We aim to develop antisense oligonucleotide therapy to treat FSHD. We demonstrated that newly-developed DNA-like molecules (Gapmers) suppressed DUX4 expression in vitro and in vivo, and improved the muscle strength of an FSHD mouse model. I received several helpful feedbacks from both academic and industrial colleagues after the session. I am sure that it will help us to make progress of our research.

Finally, I would like to thank FSH Society for organizing this exciting conference and Friends of FSH Research for support funding, which covered the part of my expenses. This conference was fascinating and useful. I would like to attend the congress next year as well.

See grant: Young Investigator Travel Grant