In laboratories at the ҹɫÊÓƵ School of Medicine (UNR Med), a rare disease that many people have never heard of is driving globally significant discoveries — changing how it’s diagnosed, studied and, one day, treated.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy. It causes gradual muscle weakness, typically starting in the face, shoulders and upper arms. For some, symptoms appear in adolescence; for others, not until later in adulthood. Its progression is unpredictable, affecting men and women of all ages in very different ways.
In the United States, FSHD is estimated to affect between 16,000 and 32,000 people. But researchers believe the true number may be closer to 100,000 due to underdiagnosis. Globally, that number could approach one million people — many living without answers.
There is still no cure, and until recently, few tools existed to study or diagnose FSHD effectively.
At the forefront of changing that reality are researchers at UNR Med: Peter Jones, Ph.D., the Mick Hitchcock, Ph.D., Endowed Chair in Medical Biochemistry, and Takako Jones, Ph.D., research associate professor. Together, they lead the Peter and Takako Jones Lab — an interdisciplinary, highly collaborative team that has become one of the most recognized FSHD research groups in the world.
A disease hidden in plain sight
Unlike many genetic diseases, FSHD is not caused by a simple mutation that can be easily identified. Instead, it is an epigenetic disorder — a disease of gene regulation. In people without FSHD, a gene known as DUX4 is turned off in muscle cells. In those with the disease, that “off switch” fails.
“The gene itself isn’t different,” Peter explained. “What’s different is whether it’s active or not.”
That distinction makes FSHD particularly difficult to diagnose and study. The relevant region of DNA contains thousands of repeated sequences, but only one sequence drives disease in patients with FSHD. Traditional genetic testing struggles to distinguish between harmful and harmless copies, making diagnosis expensive, complex and often inaccessible — requiring specialized laboratories and costing thousands of dollars.
For many families around the world, diagnosis has simply been out of reach.
Listening to a patient
The Jones Lab’s journey into FSHD first began with a single student.
In 2002, while Peter was a junior faculty member studying a different neurodevelopmental disorder, a graduate student named Ryan Wuebbles approached him with an unexpected request: he wanted to study FSHD. He had recently been diagnosed himself.
“At the time, I had never even heard of it,” Peter recalled. “But Ryan said, ‘You work on epigenetics — this might be an epigenetic disease.’ So I thought, what the heck — let’s try it.”
That simple exchange would redirect the lab’s focus and ultimately help reshape the field.
“Dr. Jones is an amazing scientist, and his research interest aligns perfectly with FSHD, so I’m not really surprised by what he’s accomplished,” Wuebbles said. “I’m proud that I introduced the right person to FSHD to help fix the problem.”
In 2006, the lab received the first National Institutes of Health (NIH) R01 grant ever awarded specifically for FSHD research, a milestone that signaled growing recognition of the disease as a serious scientific priority.
“That’s the lesson: by speaking up and advocating for themselves, patients can change the direction of science and the prospects for therapy. One person can make a difference.”
Wuebbles’ influence didn’t end when he left the lab. After graduating from the University of Illinois in 2009, he continued his career in muscle disease research, eventually moving to Reno to work with Dean Burkin, Ph.D., developing therapeutics for Duchenne muscular dystrophy.
Years later, Peter and Takako, too, would make their way to the ҹɫÊÓƵ — bringing the same FSHD focus that Wuebbles had helped spark decades earlier.
“Everything we’ve done in FSHD traces back to one patient who decided to do something about his condition,” Peter said. “That’s the lesson: by speaking up and advocating for themselves, patients can change the direction of science and the prospects for therapy. One person can make a difference.”
Journey to Reno
After years building their research program at institutions including Boston Biomedical Research Institute and UMass Chan Medical School, the Jones Lab made a pivotal move in 2017 to the ҹɫÊÓƵ School of Medicine.
The decision was driven by more than facilities — it was also driven by a commitment to support.
“The University told us, ‘We will invest in your success,’” Peter recalled. “And they meant it.”
At the University, the lab found an environment where innovation was encouraged. State-of-the-art resources — including a top-tier animal research facility directed by Benjamin Weigler, DVM, MPH, Ph.D. — also allowed their work to expand rapidly.
“It’s the kind of place where we could take risks,” Takako said. “And that’s how breakthroughs happen.”
Building breakthroughs together
The lab’s success is rooted in collaboration. Peter brings expertise in epigenetics and gene regulation, while Takako, trained in molecular and developmental biology, approaches the disease from a different angle. Alongside them, longtime collaborator Charis Himeda, Ph.D., research associate professor, and the lab team have built a uniquely integrated program capable of tackling one of the most challenging diseases in biomedical science.
"I've never worked with such fearless scientists," Himeda said.
"Peter and Takako are truly driven by the most important questions and problems in the field, and if a necessary tool or model doesn't exist, they make it," Himeda said. "Being a part of that mindset and approach to research has been a real blessing."
Their progress has indeed come through a series of breakthroughs that have reshaped the field.
In 2014, Takako published a pioneering epigenetic diagnostic approach for FSHD. In 2015, the lab demonstrated that epigenetic state plays a critical role in determining disease severity. That same year, Takako developed the FLExDUX4 mouse — the first disease-relevant animal model for FSHD — which has since become the most widely used FSHD model in the world by both academic laboratories and pharmaceutical companies. Himeda also pioneered a CRISPR-inhibition approach for FSHD, introducing a novel gene therapy strategy designed to silence expression of the disease-causing gene activity.
The lab has continued to innovate. Between 2024 and 2025, Himeda developed next-generation gene therapy components and cargos, including compact regulatory systems and all-in-one CRISPR vectors. Most recently, in 2026, Takako introduced D4Z4caster, a further advancement in epigenetic diagnostics.
Many of these breakthroughs were once considered impossible.
“Nobody had been able to make a proper mouse model for FSHD for years,” Peter said. “Takako did it. The field needed a large animal model of FSHD for translating therapies to clinic, so Takako created the FSHD minipig. People said you couldn’t create a sequence-based diagnostic for FSHD — she did that too.”
“We did it together. I couldn’t have done this without Peter’s determination and leadership,” Takako said.
Today, these tools bolster FSHD research worldwide and are used by pharmaceutical and biotechnology companies working to develop future therapies.
Expanding access to diagnosis
Perhaps the most immediate impact of the lab’s work has been in diagnostics.
Historically, FSHD testing required fresh blood samples, specialized equipment, and cost between $2,000 and $6,000 — often without insurance coverage. The Jones Lab made the process simpler and far less expensive, developing a saliva-based test that costs about $70.
That shift has profound implications.
“We realized there’s an often-overlooked economic barrier in rare disease,” Peter said. “It comes down to access to knowledge — just figuring out what’s wrong.”
The lab now provides confidential, no-cost testing, helping families around the world gain answers through , a non-profit founded by Peter and Takako.
One story that deeply shaped their mission involved a family from Kenya who sold part of their coffee farm to travel to the United States just for a diagnosis. In their community, the disease had been attributed to a curse.
“To them, just knowing what was wrong mattered,” Peter said. “Not having a cure didn’t matter in that moment. Understanding mattered.”
Today, patients across the globe are gaining access not only to testing but also to growing networks of support and advocacy.
Redefining a disease through global collaboration
As their work expanded, so did their reach. Through collaborations in Australia, Brazil, South Africa, Chile, Ukraine, Poland, Vietnam, Sri Lanka, Egypt, Algeria and Canada, the lab has assembled the largest and most comprehensive repository of FSHD patient samples in the world.
Analyzing these samples has led to a fundamental shift in how researchers understand the disease.
The team is now proposing that FSHD be redefined based on epigenetic state rather than traditional genetic criteria — a change that could ensure patients previously excluded from diagnosis are finally recognized.
A global mission powered by access
This effort has been made possible in large part by biomedical researcher Mick Hitchcock, Ph.D., whose support has enabled the lab to bring research directly to patients around the world.
Established in 2014, the Mick Hitchcock, Ph.D., Endowed Chair in Medical Biochemistry provides distinguished scholars with the opportunity to advance their research, teaching and public service. This tenure-track faculty position strengthens research development in medical biochemistry while also supporting the mentorship of future scientists.
“I felt that the Chair in Medical Biochemistry would help provide an academic researcher with extra bandwidth to tackle an underserved disease,” Hitchcock said. “Peter Jones maintains a focus on helping patients. He has advanced the diagnosis of FSHD and assisted patients around the world in understanding their disease status at no cost. I hope this work will lead to a better understanding of the disease and, potentially, a treatment.”
That vision is now being realized on a global scale. To date, the MyFSHD.org program has reached more than 4,000 individuals across 78 countries and territories.
The impact is deeply human. Families who once had no access to care are finding answers. Parents are gaining clarity about their children’s risk. And in countries where FSHD is not even formally recognized, entirely new patient communities are beginning to take shape.
In Vietnam, for example, the lab’s work is helping launch the country’s first patient-led FSHD organization while also partnering with hospitals to establish recognition of the disease within the health care system.
“The Hitchcock endowment has made a world of difference,” Peter said. “It allowed us to build something global — something that truly reaches people.”
From discovery to impact
Today, the Jones Lab is not only advancing science — it is helping build the future of FSHD care.
Their tools are used by researchers and companies around the world. Their models enable the testing of new therapies. Their diagnostic approach is giving answers to patients who previously had none.
“Patients tell us what matters,” Peter said. “Our job is to respond.”
In 2019, Peter, Takako, Himeda and Hitchcock launched Renogenyx, Inc., with the goal of bringing CRISPR-inhibition gene therapies to the clinic.
Yet their work remains deeply personal.
Peter and Takako regularly connect with patients around the world, answering questions and sharing progress. Their guiding principle remains simple: listen first.
Recognizing World FSHD Day
Each year on June 20, raises awareness of a disease that remains largely invisible despite its global impact. For the Jones Lab, it is both a moment of reflection and a call to action.
The challenges remain — no cure, limited treatments and unequal access to care.
But progress is undeniable.
From a single student’s request in 2002 to a globally recognized research program, from costly and inaccessible diagnostics to affordable testing available worldwide, the field is moving forward.
And in Reno, that progress is accelerating.
