Two million dollars in research grants for facioscapulohumeral muscular dystrophy


“We hope a situation as dire as the COVID-19 pandemic never repeats itself,” said Jamshid Arjomand, PhD, chief science officer at the FSHD Society. “As we look forward to the scientific results of these studies, we remain committed to continue funding important research in the years to come.”

Following a lull imposed by the global pandemic, the FSHD Society’s support for research grants has come back with a roar, as 15 projects received more than $2 million in funding in 2021, the most ever allocated in a calendar year in the history of the Society.

The research proposals approved for funding during 2021 ran the gamut of possible topics, which are summarized below:

1) Discovery research encompasses studies that aim to identify the pathways leading to muscle loss in FSHD. Academic researchers excel in these topic areas and use cutting-edge tools to tease out complex mechanisms to identify possible points of intervention. The proposals in this category included a study on the cause of FSHD2 – the structure and function of SMCHD1 (Alexandra Gurzau at Walter and Eliza Hall Institute, Australia); the impact of membrane repair deficit in FSHD (Adam Bittle at Children’s National Medical Center, MD); two projects exploring the role of metabolic changes, reactive oxygen species, and hypoxia in FSHD (Angela Lek at Yale University, CT, and Philipp Heher at King’s College London, UK); three proposals exploring different signaling pathways downstream of DUX4 activation (Sujatha Jagannathan at University of Colorado, Denver; Virginie Mariot at University College London, UK, and Alec DeSimone at Yale University, CT); and one project on the interactions between the immune system and muscles in FSHD (Yegor Vassetzky at Institute Gustave Roussy, France). These projects were supplemented with a proposal to generate a more accurate mouse model of FSHD (Yosuke Hiramuki at Tottori University, Japan).

2) Projects spanning the development of therapeutics included a CRISPR gene editing study (Afrooz Rashnonejad at Nationwide Children’s Hospital, OH); a study on the mechanisms of action of losmapimod (Rajanikanth Vangipurapu at St. Louis University, MO); the development of novel delivery methods for antisense therapies (Alexandra Tassin at University of Mons, Belgium); and a circulating biomarker study (Robert Bloch, University of Maryland).

3) Clinical projects included a pediatric natural history study (Katy de Valle at Royal Children’s Hospital, Australia) and a project to assess facial weakness as a clinical outcome measure in FSHD (Karlien Mul at Radboud University, the Netherlands).

The Society, through the generosity of it donors, has been funding groundbreaking research for more than 30 years. The research grants, also known as investigator-initiated research proposals, are drafted by dedicated researchers in the field of FSHD and span the entire drug development pipeline, from basic or discovery research through clinical outcome measures. In recent years, the Society has allocated approximately $1 million in research funding annually, which is distributed over two grant cycles per year.

In 2019, the FSHD Society launched a new grant submission portal to streamline the grant management process, and slashed the review period in half, from six months per cycle to three months. Along with this automation, the FSHD Society updated the eligibility criteria of the applicants by promoting postdoctoral fellows and newly appointed faculty members to apply for funding. This allows up-and-coming scientists to test innovative ideas that can help launch their careers in the field of FSHD. In addition, the Society also updated the funding terms and conditions to better promote resource sharing among groups.

With these new tools in place, the 2020 grant cycle started off with 13 applications, of which four proposals were prioritized by the Society’s Scientific Advisory Board (SAB) and subsequently funded. Unfortunately, with the spread of the global COVID-19 pandemic, all research institutions began shutting down by April of 2020, and research – like so many other activities – was put on hiatus.

Due to the uncertainty with the pandemic and the ability of researchers to resume their critical work, the Society opted to postpone the second grant cycle for 2020 to determine if the reserve funds should be used instead to support existing researchers and their projects. Fortunately, most government-funded research institutions were able to meet these unprecedented challenges by providing salary support to their staff, and as new safety regulations emerged later that year, researchers were able to slowly resume their work.

As one can imagine, a pause in funding or prolonged delays in research can effectively slow down the momentum in any field, leaving budding researchers to look for other opportunities and possibly even abandon FSHD research altogether. Instead, FSHD scientists seized on this opportunity and used the lockdown time not only to finish manuscripts for publication, but also to draft new ideas for experiments that could move the field forward.

In late fall of 2020, the FSHD Society reopened the grant portal and received a record-breaking 23 grant applications, of which 10 proposals were deemed to have significant impact by the SAB and recommended for funding. With a surplus in available funding from the postponed cycle, all 10 proposals, totaling $1,315,000, were funded, shattering any previous annual funding year in just one cycle.

The Society has just completed the review of the second round of funding for 2021, which included 17 new proposals, of which five proposals totaling $772,000 were selected and approved for funding. In total, the FSHD Society committed more than $2 million in funding to support groundbreaking research for 2021. This infusion of funding should help boost any perceived loss of momentum the field may have experienced from the pandemic.

“We hope a situation as dire as the COVID-19 pandemic never repeats itself, and are thankful to all of the researchers and for the community’s generous support,” said Jamshid Arjomand, PhD, chief science officer at the FSHD Society. “As we look forward to the scientific results of these studies, we remain committed to continue funding important research in the years to come, and thank our donors for their sustained support to help realize this commitment.”

For details on recently awarded grants, visit fshdsociety.org/grants/grants-we-have-funded/.

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