Supporting research and patient outreach for Facio Scapulo

Supporting research and patient outreach for Facio. Scapulo. Humeral Muscular Dystrophy (FSHD), one of the most common forms of muscular dystrophy. Progress on FSHD could benefit a wide range of other areas of medicine, from cancer and diabetes to regrowing and repairing injured and aging muscles.

Who Am I? INSERT PRESENTER INFO HERE

Our vision and mission • To deliver treatments and a cure for FSH muscular dystrophy. • Connect all the stakeholders. • Promote research focused on FSHD through thought leadership, networking, and funding.

What is FSH muscular dystrophy? • FSH Muscular Dystrophy (FSHD) results in a lifelong, progressive loss of skeletal muscle: face, arms, shoulders, back and legs, core and beyond. • It is caused by a genetic defect, one that is passed down from parent to child but can also arise spontaneously. It can affect anyone. • An estimated 870, 000 people worldwide have FSHD. • Symptoms may be evident at birth or during childhood, but more often appear during teenage and adult years. • FSHD can be profoundly disabling, causing a loss of facial expression, difficulties with speech and hearing, and inability to lift objects or walk. • There is no effective treatment or cure.

We have transformed the landscape • Funded over $5 million in research grants, seeding discoveries that have transformed the field. • Created a global research program when none existed, by recruiting and funding scientists. • Initiated the MD CARE Act mandating the U. S. to allocate resources to all muscular dystrophies including FSHD. • Empowered a worldwide network of patients and families through education, peer -to-peer support and access to care. • Coordinated a global campaign to cure FSHD.

FSH Society-funded breakthroughs • Discovery of the genetic causes of FSHD. • Identification of genes and proteins that damage muscle cells, as well as the mechanisms that can cause the disease. • FSHD cell lines and animal models to test hypotheses and potential treatments. • Methods to detect and measure FSHD so that we can begin to test treatments. • High through-put drug screening to identify potential therapies. Image: Induced pluripotent stem cells with FSHD

Achievements ¡U. S. government funding for FSHD research. ¡ MD-CARE Act 2001 ¡ MDCC Action Plan 2006 ¡ MD-CARE Act Re-authorization 2014 ¡NIH Funding for FSHD research in 2001: $400, 000 ¡NIH Funding for FSHD research in 2013: $5 million ¡$5 million of FSH Society grants leveraged into $78 million of NIH funding

FSHD remains underfunded ¡Progress in FSHD is all the more remarkable given the relative lack of funding!! (Graph courtesy of Doug Craig, Ph. D. )

Challenges & Opportunities ¡Cost to develop a new drug: $100 Million + ¡FSH Society has a vitally important role to play in helping to reduce risk for biotechs and pharmas: ¡ Patient + Family network ¡ Improving FSHD care standards through education & outreach ¡ Driving efforts to mobilize volunteers for clinical studies and future clinical trials ¡ Coordinating stakeholders for initiatives that will speed up clinical trials ¡ Continuing to support basic research!!

What we can accomplish TOGETHER ¡Treatments to slow or stop FSHD ¡Improve health care and quality of life through better understanding of FSHD ¡Ensure that the pipeline for new drugs is replenished ¡Secure more funding from governments, NGOs & industry

Give with confidence The FSH Society’s Board of Directors and Scientific Advisory Board includes world scientific leaders including Drs. Louis Kunkel and David Housman. We fund only the most rigorous and promising research. Charity Navigator has named the FSH Society one of America’s Ten Charities Worth Watching. We have earned our sixth consecutive 4 -star Charity Navigator rating, placing the FSH Society among the top three percent of U. S. charities for fiscal performance and accountability.