Medical Research
We aim to find a cure for FSHD, and help everyone live the fulfilling life they deserve.
Currently, there are no effective treatments for FSHD to slow or reverse the muscle damage caused by the disease. People are left with muscles that waste away and pain that can rob them of the life they want to live.
But we believe a world without FSHD is possible. And so, at the FSHD Global Research Foundation, we have set our ambitions high: to find a cure for FSHD, and help everyone live the fulfilling life they deserve.
We will only achieve this goal through research, with your support.
Our Research
FSHD Global are a leading funder of research into FSHD. We collaborate with the world’s best scientists and clinicians to build our knowledge of this disease, find new opportunities for treatments, and give life back to muscles.
The research we fund spans from fundamental lab research to understand the mechanisms of this disease, right through to translational research to turn exciting discoveries into the treatments of the future.
FSHD Global has been funding groundbreaking research into FSHD since 2007. To date, the Foundation has successfully funded 64 research grants across 11 countries, thanks to your support.
How we fund research
Our focus is on transparency and impact. That’s why each grant application we receive is scrutinised by our Scientific Advisory Board, and why we stipulate our scientists report their results back to us and publish their work for all to see. This keeps us accountable to our donors, supporters, and patients – because without your trust, none of our work is possible.
In addition, our work is helping increase the involvement of the biotech and pharmaceutical industries in FSHD research. This will accelerate the development of new treatments and clinical trials for people affected.
Thanks to your support, our research is creating discoveries that will ultimately lead to a cure for people living with FSHD, and improve muscle health for everyone.
Bringing breakthroughs to the clinic
As our understanding of FSHD has expanded, so has the Foundation’s work. On top of supporting research, we also focus on translational science, collaborations with biotech companies, clinical trial readiness, and new technology.
Through this work, we’re carving a path to take breakthroughs from the lab all the way to clinical trials – helping to ensure your investment in research will ultimately benefit people with FSHD.
Building FSHD expertise in Australia
As well as supporting research across the world, your donations are strengthening the FSHD research community here in Australia.
We make sure every international research project we support has an Australian scientist as part of the team. This will help develop expertise in FSHD and scientific talent in Australia, for the benefit of people living with FSHD here.
Our areas of research
Grant 54
Establishing a fully characterized cell bank for FSHD
Grant 71
CTRN – Clenbuterol to Target DUX4 in FSHD (Target FSHD): A Phase 1 Open label Safety and Tolerability Study of 3 Doses of Clenbuterol
Grant 74
CNH Investigating Bioavailability, Distribution and Efficacy of Antisense Oligonucleotides Targeting DUX4
Grant 78
MCRI Paediatric Analysis – Cure FSHD for All
Grant 1
Investigation into the role of FHL1, Calcineurin and NFAT in reducing mescule wasting in FSHD
Grant 2
Derivation of human embryonic stem cells to aid medical research in FSHD
Grant 3
Biomarker in FSHD, a metabolome study in blood, urine and muscle
Grant 4
Comparing the Dnasel-Hypersensitive Chromatin Landscape at 4q35 of FSHD and Control Cells
Grant 5
Defining the mechanism controlling muscle specific gene expression in FSHD
Grant 6
Deciphering the long distance interactions of the D4Z4 array in control and FSHD cells
Grant 7
Molecular Genetic Basis of Facio Scapulo Humeral Dystrophy
Grant 8
Dysregulated Pathways in FSHD: Recreating the FSHD Phenotype
Grant 10
Study of DUX4 and DUX4c gene expression in human embryonic stem cells
Grant 11
The development of an antiDUX4 therapeutic based on chemical inhibitors of DUX4
Grant 12
Culture and Expansion of DUX4 in Human Embryonic Stem Cells Carrying FSHD
Grant 13
Bill Moss AO Fellowship for Dr Leslie Caron
Grant 14
Tissue-specific silencing of the Planar cell polarity gene FAT1 as a causal mechanism for FSHD
Grant 15
DUX4 inhibition as a therapeutic strategy for FSHD
Grant 16
Recreating the human chromosomal genetic defect responsible for FSHD in a mouse model
Grant 17
Evaluation of antisense strategies to suppress DUX4 expression in FSHD
Grant 18
Study on the clinical features, expression profiling, and quality of life of infantile onset FSHD
Grant 19
FSHD drug discovery based on chemical inhibitors of DUX4
Grant 20
Identification of drugs for the normalization of aberrant FSHD candidate gene expression
Grant 21
Drug targeting of myoblast fusion as a treatment for FSHD
Grant 22
Increasing SMCHD1 Levels as a Therapy for FSHD1 & FSHD2
Grant 23
Clinical Study of Bone Health in FSHD
Grant 24
Generation of Drosophila-Based Biomedical Models of FSHD
Grant 25
Enhancing BMP signaling to treat FSHD
Grant 26
Functional study of a novel candidate gene for FSH (LRIF)
Grant 27
Preclinical Studies of Fisetin and VBP15 in Facioscapulohumeral Muscular Dystrophy
Grant 28
Application of novel isoflavones in an FSHD hESC model system
Grant 29
Training Agreement to Netherlands
Grant 30
HDL based therapy is a potential treatment for FSHD
Grant 31
AO Transporter
Grant 32
A multicenter natural history and biomarkers study of infantile onset FSHD
Grant 33
Facio Therapies Biotech Investment Grant
Grant 34
Targeting DUX4 using gene-silencing oligonucleotides in FSHD models
Grant 35
FSHD Consensus
Grant 37
The next wave of Whole Genome Sequencing-based FSHD diagnostics, and clinical measures of progress
Grant 38
Small molecule inhibitors of DUX4 as FSHD therapeutics
Grant 39
High throughput chemical screens for activators of SMCHD1, as potential therapeutics for FSHD
Grant 40
Living life with FSHD: who is affected and how.
Grant 41
Characterisation of DUX 4 protein – protein interactions in FSHD cell lines and tissue biopsies by cross-linking and mass-spectrometry
Grant 42
Respiratory restriction and sleep disordered breathing in FSHD
Grant 42
Respiratory restriction and sleep disordered breathing in FSHD
Grant 43
Testing novel therapeutic strategies to combat the metabolic disturbances underlying the muscle pathology of FSHD
Grant 44
Physical function outcome measures in paediatric FSHD
Grant 45
Crystal Structure of DUX4 protein domains
Grant 47
Pre-clinical testing for FSHD CRISPR-inhibition therapy
Grant 49
Cell Characterisation
Grant 50
Investment into an FSHD focussed biotech, Facio Therapies
Grant 51
FSHD Medical Education Portal
Grant 52
Generation of porcine large animal models for FSHD therapeutic development and preclinical testing
Grant 55
Altay Therapeutics
Grant 56
Harry Perkins – Bionano
Grant 58
BRGX
Grant 59
International Research Scholarship
Grant 60
‘Cure FSHD’ Registry
Grant 63
Mouse study – Vasa Therapeutics
Grant 68
ENMC – Sponsorship
Grant 70
Smart CRC
Grant 9
Biomarkers in FSHD, a metabolome study in blood, urine and muscle
Grant 36
Comparing the Dnasel-Hypersensitive Chromatin Landscape at 4q35 of FSHD and Control Cells
Grant 46
Derivation of human embryonic stem cells to aid medical research in FSHD
Grant 62
Mouse Study – off label medication study on muscle regenerative effects.
Grant 65
Mouse Study – Myologica – Histone
Grant 66
Full body MRI scans to be incorporated into the Cure FSHD Patient Registry. Patients 50 – 99
Grant 67
AI analysis of full body MRI scans to be incorporated into the Cure FSHD Patient Registry. Patients 50 – 99
Grant 79
AI-Based Bone and Adipose Quantification FSHD
Grant 48
Muscle-in-a-dish, development of an in vitro platform of human skeletal muscle.
Grant 53
Development of BRGX’ proof‐of‐principal to edit the 4q35A gene locus that causes DUX4 gain of function underlying FSHD pathology
Grant 57
AI analysis of Australia’s first 50 full body MRI scans to be incorporated into the ‘Cure FSHD’ Patient Registry
Grant 64
Development of a Disease Progression Model in partnership with Sringbok Analytics