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. 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.

As parents of a child who suffers from myotubular myopathy (MTM), we know first hand about the trials and tribulations that come with this deadly disorder. Our son, Joshua, has shown us the true meaning of courage and has proven to be a fighter.

Our mission is simple: We are funding research for a cure, raising awareness of MTM and other related congenital myopathies and reaching out to other families who deal with the day to day care needed to enhance the lives of these children.

The Joshua Frase Foundation, through the efforts of friends, family and a dedicated staff, has given us real hope for a cure and has improved the quality of life for children living with this disorder. Our goal of myotubular myopathy being added to the ”endangered disease” list is in our sights but it can’t happen without people like you. In time, a cure will be found.

We invite you to join us on our journey, which we believe will result in the “Joshuas” of this world walking up to you, taking you by the hands and saying ‘thank you’.

JFF funds genetic research for stem cell and gene therapy at Children’s Hospital Boston, as well as cell regeneration at Wake Forest Institute for Regenerative Medicine in North Carolina.