Our story

The FSH Society is a nonprofit, patient-driven organization supporting research and education for facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent forms of muscular dystrophy. Progress on FSHD could benefit a wide range of other areas of medicine, from cancer and diabetes to muscle regeneration and repair.

Who We Are
Founded in 1991 by two individuals with FSHD, Steve Jacobsen and Daniel Perez, the FSH Society is the world’s largest and most progressive grassroots network of patients, families, clinicians and research activists. Among the most prevalent of the muscular dystrophies, FSHD affects an estimated 870,000 people worldwide.

What We Do
We help patients and families through education and outreach; fund scientific research that is rigorously reviewed by our world-class Scientific Advisory Board; and advocate for increased government and industry investment in research and therapy development.

What We Have Accomplished
We established an FSHD research program at a time when none existed, by recruiting scientists and advocating for FSHD research. The Society has funded over $6.85 million in research grants, which have been leveraged to over $94 million in funding from the National Institutes of Health and other organizations. See the grants we have funded.

Our efforts have resulted in:

  • passage of the MD-CARE Act mandating federal action on all muscular dystrophies
  • the discovery of the genetic causes of FSHD
  • understanding of how the genetic defects lead to expression of a toxic gene
  • high-throughput drug screening to identify potential treatments
  • the development of FSHD animal models
  • induced pluripotent stem cell lines for drug screening and gene therapy
  • applications of genomic engineering aimed at blocking the genetic defect in FSHD
  • the development of biomarkers, imaging markers and clinical trial endpoints
  • publication in 2015 of the first evidence-based FSHD care guideline.

Breakthroughs Are Happening
In 2010, research initiated by the FSH Society led to the discovery of a specific genetic “package” called DUX4 associated with FSHD. In November 2012, an international team discovered a second gene, SMCHD1, that causes FSHD Type 2. These landmark findings are launching us into the era of drug discovery.

Notable FSH Society-Funded Research

Many of the seed grants and starter projects have generated data and insights that help with screening for FSHD, improve genetic testing, and ultimately improve the speed and accuracy of diagnosis.

FSH Society seed grants launched the international effort that culminated in the discovery of the complex genetic mechanism by which D4Z4 contractions on chromosome 4 result in expression of the DUX4 gene in FSHD Type 1. FSH Society grants also contributed to the discovery of SMCHD1’s role in FSHD Type 2 and as a disease modifier in FSHD Type 1.

In the area of therapy/treatment, we launched two groundbreaking nutritional research projects covering creatine, MRI/MRS, and better biomarkers and techniques to measure clinical trial outcomes and endpoints.

Respiratory insufficiency is a serious complication that can happen with FSHD. The FSH Society is assembling a knowledge base and guidelines, and disseminating information on respiratory insufficiency and care in FSHD.

The Society helped advise, network, and consult with clinicians, patients, and Wyeth Pharmaceuticals to bring about the clinical trial of the myostatin inhibitor myo-029.

The Society met with Acceleron Pharma to make the case for FSHD as a candidate disease for their myostatin inhibitor ace-031.

In 2014, the FSH Society worked with aTyr Pharma to recruit volunteers for biomarker studies in association with aTyr’s launch of a Phase I clinical trial of a novel therapeutic compound for FSHD.

Also see Breaking News for notable FSH Society-funded research.

Our Promise
As long as we are here, no patient need ever face this disease alone. And with generous donations from patients, families, friends, major donors, and sponsors, the FSH Society will keep working to accelerate research leading to treatments.

Read in Japanese, Chinese (traditional), Chinese (simplified), and Korean. We are deeply grateful to Dr. Kohei Hamanaka and his laboratory for translating this page.