History Of FSHD

FSHD Global funds first grants:
Professor Christina Mitchell and her team received funding to study the role of FHL1, calcineurin and NFAT in reducing muscle wasting in FSHD. Work from this grant lead to a better understanding of the role of FHL1 in myoblast fusion.

Sydney IVF awarded funding to generate the first embryonic stem cell line with the FSHD mutations. These cells advanced research into FSHD around the world.

Baziel van Engelen and his team received funding to investigate biomarkers for FSHD to help with diagnosis and research into FSHD by providing researchers with markers that will measure treatment effect.

This work was able to characterise muscle features of FSHD that can be measured by MRI. This was part of a larger study that was looking at the effect of exercise and cognitive behavioural therapy for people with FSHD and chronic fatigue.


2009 – FSHD1 and FSHD2 are used to describe FSHD symptoms that are associated with a reduction in D4Z4 repeats (FSHD1) and symptoms that are not associated with repeats (FSHD2)

FSHD Global provides funds to Melanie Ehrlich to investigate other genes and gene regulation regions on the chromosomes that may be involved in FSHD. This work contributed to a 2011 publication that looked at the effect of FSHD on the timing of DNA replication (making copies).

Professor Rosella Tupler is given funding to investigate the mechanisms controlling the expression of genes in FSHD. Their research led to the discovery of some novel regulatory mechanisms, and one publication.

Dr Frederique Magdinier is given funding for research looking at how the differences in the D4Z4 repeat region lead to FSHD. In particular the research investigated the interaction of chromatin, the protein that packages up DNA, with the D4Z4 region.

Dr Davide Gabellini is given funding to further investigate the effect of decreased D4Z4 repeats. His research identified changes in the proteins that are associated with the chromosome region in FSHD, and the presence of certain RNA molecules that do not lead to protein production. (non-coding RNA)


2010 – Paper published in the journal Science reported the unifying genetic model of FSHD: that the underlying genetics of FSHD was mutations in the D4Z4 region lead to a ‘toxic gain of function’ in DUX4. That is, when the mutations are present DUX4 is more active and this has negative effects on muscle cells.

FSHD Global funds:
Professor Melanie Ehrlich to look at cellular pathways that get damaged or confused in FSHD. Part of her work identified that genes expressed during muscle development are expressed at different levels in FSHD compared to non-FSHD.

A team lead by Professor Alexandra Belayew is given funding to investigate DUX4 in embryonic stem cells developed by Sydney IVF and FSHD Global.

A team lead by Professor Michael Kyba is funded to investigate new chemical inhibitors of DUX4 activity.


2011 – FSHD Global provides funds to further develop FSHD embryonic stem cells into skeletal muscle cells. This research identifies unique muscle development pathways that are being used to develop new therapies.

Professor Francoise Helmbacher is given funds to investigate a new gene for FSHD, FAT1. Professor Helmbacher’s team found that FAT1 is important in all forms of FSHD and contributed to the severity of the condition.


2012 – Some (but not all) instances of FSHD2 are linked to mutations in a gene called SMCHD1.
Over expressing DUX4 in muscle cells is shown to lead to significant changes in the amount of expression of over 700 genes.

FSHD Global funds Professor Scott Harper to study ways of inhibiting DUX4 using RNA interference for the treatment of FSHD.

FSHD Global funds Professor Alexandra Belayew and Professor Steve Wilton (Western Australia) to look at the effect of antisense oligonucleotides to treat FSHD. Antisense oligonucleotides reduce the amount of a target protein, in this case DUX4.


2013 – Mutations in SMCHD1 are shown to also modify FSHD symptoms in people with FSHD1

FSHD Global provides Davide Gabellini with funds to investigate a new genetic switch for the D4Z4 region called DBE-T. Davide’s group are looking at how DBE-T interacts with the D4Z4 region and whether medicines can be developed that increase the ability of DBE-T to switch off the D4Z4 regions, and therefore reduce the effect of FSHD.

FSHD Global funds Professor Christine Mitchell to investigate medicines that may increase the levels of certain proteins in muscle to help slow decline in FSHD.

FSHD Global funds Professor Silvere van der Maarel and Dr Marnie Blewett (Victoria) to investigate whether increasing the level of SMCHD1 would be an appropriate treatment strategy for FSHD.


2014 – A study from the Netherlands estimated the prevalence of FSHD to be 12 per 100,000

A review of all contributions to the field of FSHD research is conducted and a consensus theory is developed for FSHD

FSHD Global funds Dr Davide Gabellini to create a new mouse model of FSHD using all the genetic material associated with the condition. This will create a better tool for the study of the process of FSHD and the development of new medicines to treat the condition.

Following anecdotal reports of people with FSHD suffering severe fractures FSHD Global engaged with leading neurologists in the USA and Australia to run a study on the risk of bone fracture in people with FSHD. The study is registered on Clinicaltrials.gov (NCT02413190). Results from this study may help people with FSHD get access to medicines and treatments that support bone health, reducing the risk of fracture and improving quality of life.
FSHD Global funds Australian researcher Dr Paul Gregorevic to investigation the potential of increasing bone morphogenic protein pathway to treat FSHD. As part of this project they are creating a new model of FSHD that better mimics the human condition.

FSHD Global continues to provide funding for drug discovery projects by providing funding to Dr Yi-Wen Chen to investigate the effectiveness of two potential treatments for FSHD.

FSHD Global provides Dr Stephen Palmer and Dr Leslie Caron to use the stem cells developed by Sydney IVF to screen a library of new molecules for potential treatments for FSHD.


2016 – FSHD Global provides funding for Dr Jean Mah to conduct a study into infantile FSHD, that is FSHD that effects children and adolescents. This study is providing valuable insight into the differences between FSHD that occurs in adulthood and FSHD that occurs in children.

FSHD Global provides funding to Dr Yi-Wen Chen to investigate the potential of new antisense oligonucleotides as a treatment for FSHD.

* Prevalence is the total number of people in a population with a particular feature such as a condition like FSHD. It is usually expressed as the proportion of the population, such as 10 per 1000. This is different to incidence, which is a measure of the number of new cases over a defined period of time.

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