Our last Watch issue of 2017 is available now!
- Team FSHD Cycling participating in the 36th Race Across America
- An introduction to new FSH Society CEO, Mark Stone
- San Francisco FSHD Family Day
- Human growth hormone and testosterone as a potential treatment for FSHD
- A new genetic mouse model for testing FSHD treatments
- Daughter and mother, Lexi and Diane Pappas share their experiences with FSHD and family
- An introductory explanation to FSHD antisense therapy
- An update on the FSH Society’s 2017 research funding
Notable findings and advances from the past six months
by DANIEL PAUL PEREZ
Chief Science Officer, FSH Society
“Conservation and innovation in the DUX4-family gene network,” from the laboratory of Stephen J. Tapscott at the Fred Hutchinson Cancer Center in Seattle, Washington (Whiddon et al. Nat Genet. 2017 Jun;49(6):935-940. doi: 10.1038/ng.3846. Epub 2017 May 1).
“Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons,” from the laboratory of Bradley R. Cairns at the University of Utah (Hendrickson et al. Nat Genet. 2017 Jun;49(6):925-934).
“DUX-family transcription factors regulate zygotic genome activation in placental mammals,” from the laboratory of Didier Trono at École Polytechnique Fédérale de Lausanne (EPFL), Switzerland (De Iaco et al. Nat Genet. 2017 Jun;49(6):941-945).
This trio of papers in the same issue of Nature Genetics identifies the master role played by DUX4 in early embryogenesis. This body of work is absolutely key and begins to unwrap the normal biological function of DUX4, which is very important to understand if we are to attempt to treat FSHD by suppressing the unwanted negative effects of DUX4.
Read more at the FSH Society.
Thanks to the efforts of Ning Baisheng and other volunteers in China, the FSH Society’s authoritative “About FSHD” educational brochures has been translated into Chinese. It can be downloaded here. We appreciate our Chinese colleagues’ efforts to connect and support FSHD patients, clinicians, and researchers in China!
Check out this video from FSHD Stichting, the Dutch FSHD Foundation, of their spring fundraising event, a show featuring popular comedian Ronald Snijders. He had no idea what he was in for, and the result caught on video has now received over one million views!
The FSH muscular dystrophy scientific literature finally has a publication describing a genetic mouse model that develops skeletal muscle disease. This work comes via the laboratory of Michael Kyba, PhD, at the University of Minnesota’s Lillehei Heart Institute. This murine model, called iDUX4 pA, has a number of compelling similarities to the human disease. Continue reading
Co-founder and Former CEO Daniel Paul Perez to continue with the FSH Society as Chief Science Officer
LEXINGTON, Massachusetts – William R. Lewis Sr. M.D., chairman of the Board of Directors of the FSH Society, today announced that Mark A. Stone has been named president and chief executive officer of the 501(c)(3) non-profit after a nationwide search.
“Mark brings with him a successful career in making a difference to patients and families suffering with rare diseases, as well as fine executive leadership skills in nonprofit health care and policy management,” said Lewis. “Mark will certainly help the FSH Society navigate the new challenges of translational research and entering into the business of supporting clinical trials while maintaining a solid basic research platform.” Continue reading
Dr. Michael Kyba (right) is among the recipients of an FSH Society grant.
The FSH Society has awarded grants totaling $616,467 to seven research projects submitted for the February 2017 grant cycle. This brings total research funding by the Society for 2017 to $1,167,260.
To learn more about the projects that are receiving this new support, visit Grants We have Funded.