Posted by George Shaw on May 30, 2018
I am very pleased to be able to share with you five new research grants that have been funded both through your investments in Persuit of a Cure, and through the additional funding provided by our co-funding partners. These are organizations that share our focus on using funds as efficiently as possible on basic research, with a slow transition toward clinical trial preparedness so that we will be ready to test potential therapeutics.
Identify Biomarkers for FSHD Using Omics Approaches
Investigator: Yi-Wen Chen
In this study, Dr. Chen proposes to identify biomarkers using blood samples. Three different approaches will be used to identify candidate biomarkers, followed by validation using blood samples from additional patient visits as well as FSHD mouse models. The success of the study will identify biomarkers (blood molecular changes) via a less invasive procedure (blood vs. muscle biopsy) for evaluating therapeutic efficacy in future clinical studies. This is the second grant Dr. Chen, the first (just completed and wrapping up) investigating a novel therapeutic approach.
Regulation and activity of the DUX4 transcription factor
Investigators: Stephen Tapscott & Amy E Campbell
This multi-year award is being co-funded by The Chris Carrino Foundation for FSHD (A Voice for FSHD) and provides support for professional dedicated lab personnel with exceptional expertise in FSHD research to both perform research and to train new investigators, graduate students, postdoctoral fellows, and collaborators seeking to pursue FSHD research projects.
Please note that in providing fully half of the funding for this grant, the Carrino Foundation has allowed your investments to be stretched much further, creating the opportunity to train new FSHD investigators, and speeding up the progress toward clinical studies and an eventual cure for FSHD. See a list of other grants made in conjunction with our co-funding partners.
Intramuscular pattern of fat infiltration in FSHD measured by MRI: towards identification of disease initiation and progression and improved diagnosis of disease severity
Investigator: Arend Heerschap
MR imaging is emerging as an important biomarker for FSHD that will be employed for monitoring during clinical trials. In addition to adding to our longitudinal understanding of FSHD this grant aims to harness AI to facilitate use of MR in this capacity. "The lab in Nijmegen, including Dr. Heerschap, has been at the forefront of MR imaging in FSHD," commented Dr. Dennis Shaw, a member of our Scientific Advisory Board (SAB).
Deciphering the role of aberrant protein synthesis in FSHD
Investigator: Sujatha Jagannathan
Dr. Jagannathan recently established her lab after doing post-doctoral work in the Tapscott lab at the The Hutch. The members of our SAB were impressed with her past work in that lab. Dr. Jagannathan will be validating a hypothesis regarding potential toxic protein products, confirm their presence in FSHD muscle, and assess their contribution to DUX4-induced cell death. As these aberrant RNAs and proteins are unique to DUX4-expressing cells, she will also test their utility as biomarkers for FSHD.
Mechanisms of DUX4-induced muscle atrophy
Investigator: Sachiko Homma Takayama
Dr. Homma will be validating whether a newly discovered gene that seems to be over-produced in FSHD muscle, is the actual cause behind muscle wasting in FSHD patients.
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