Joshua Frase Foundation

The Joshua Frase Foundation is dedicated to supporting ongoing medical research for myotubular myopathy and other related congenital myopathies. Ongoing research is needed to discover causes of and cures for this deadly disorder. Rather than concentrating in only one area of study, a team of leading researchers has been assembled who will try to combine their respective different areas of expertise into a multi-faceted approach aimed at understanding the pathophysiology of myotubular myopathy so that effective therapies can be formulated.

World-Renowned Medical Researchers

Leading our research is Louis Kunkel, PhD, who is world-renowned in the field of neuromuscular disease research. Dr. Kunkel discovered the gene for Duchenne muscular dystrophy and at least two genes associated with limb girdle muscular dystrophy. He is also well-known for his research on cell therapy of neuromuscular conditions.

We are dedicated to supporting families lacking the resources for medical equipment needs. Parents grapple with physical, financial and emotional hardship as they fight for the lives of their children. These children often cannot perform the simplest functions by themselves, like swallowing or breathing. They must be supervised 24 hours a day, often requiring expensive medical equipment. The Foundation also promotes networking so families can stay in touch with each other and informed about ongoing research.