30 October 2026
FSHD Global is helping more people around the world get a diagnosis, regardless of where they live
New funding will expand access to research-grade FSHD saliva testing, supporting individuals and families in Australia and around the world who are seeking answers about their symptoms.
FSHD Global Research Foundation has funded a dedicated staff member in the laboratory of Professor Peter Jones at the University of Nevada Reno School of Medicine (USA), to support the management and delivery of saliva testing for facioscapulohumeral muscular dystrophy (FSHD).
The investment will strengthen the laboratory’s capacity to provide research-grade testing at no cost to eligible individuals around the world, including people in countries where access to specialist diagnostic services may be limited. This project has already helped individuals in >75 counties and includes regions such as Ukraine, South Africa, Brazil, India, Africa, Pakistan, Singapore and Vietnam, as well as Australia and New Zealand.
For people living with symptoms that may indicate FSHD, the path to understanding their condition can be long and uncertain. Access to testing can help individuals and families obtain valuable information about whether FSHD may explain their symptoms, supporting further discussions with healthcare professionals about appropriate medical care, symptom management and future planning.
FSHD is a genetic muscle disorder that can cause progressive muscle weakness, affecting areas including the face, shoulders, arms, trunk and legs. Yet access to appropriate testing and diagnosis remains a significant challenge for many people, particularly those living in countries with limited access to specialist services.
By funding dedicated laboratory capacity, FSHD Global is helping to reduce one of the barriers that can prevent people from accessing information about their condition.
“Access to answers should not depend on where someone lives or whether they can afford to access specialist testing. By supporting the capacity of Professor Peter Jones’s laboratory to manage saliva testing, we can help more individuals and families access valuable information about their symptoms. This is particularly important for people in countries where diagnostic pathways may be difficult to navigate or specialist services are not readily available,” said Emma Weatherley, CEO of FSHD Global Research Foundation.
“We thank FSHD Global Research Foundation for this support that allows us to continue helping people around the world get information and answers as to the risk for FSHD in themselves and their loved ones. This empowers people to access the right information and help regardless of where they live or their economic status,” said Professor Peter Jones.
An important step towards answers — and better care
Whilst research-grade saliva testing can be an invaluable resource, it is important to understand its role in the diagnostic process.
It is not a substitute for a clinical genetic diagnosis, which is required for participation in clinical trials investigating potential FSHD treatments. However, it can provide valuable information for individuals and families seeking to understand whether FSHD may be responsible for their symptoms and whether further clinical assessment is warranted.
Obtaining appropriate diagnostic information can help people have more informed conversations with their healthcare providers, explore suitable care and support, and plan for the future.
As research into FSHD advances and potential treatments move closer to clinical application, improving access to testing and diagnostic pathways remains an important part of ensuring that progress can ultimately benefit the people who need it.
How to access FSHD saliva testing
For individuals in Australia, FSHD Global encourages those who suspect they may have FSHD to join and complete the questions in the Cure FSHD Patient Registry. The registry provides a free pathway to information about saliva testing and other tools that may assist in the assessment of a potential FSHD diagnosis.
Visit: fshdglobal.org/curefshd
For those outside Australia, individuals are encouraged to explore the registry available in their country or contact Professor Peter Jones’s laboratory directly to enquire about testing availability and access.
Working towards a future with treatments for FSHD
FSHD Global Research Foundation funds research and initiatives designed to accelerate progress towards effective treatments and a cure for FSHD. Improving access to testing is an important part of this mission, helping more people obtain information about their condition while supporting the broader FSHD community and research landscape.
Through targeted investment and international collaboration, FSHD Global is working to ensure that people affected by FSHD are better positioned to benefit from scientific progress, wherever they live.
About FSHD Global Research Foundation
Established in 2007, FSHD Global Research Foundation is an Australian not-for-profit organisation dedicated to funding world-class medical research, awareness and education to accelerate the development of treatments and a cure for facioscapulohumeral muscular dystrophy (FSHD). The Foundation relies on community and philanthropic support to advance its mission.
Media enquiries:
FSHD Global Research Foundation
lorel@fshdglobal.org