Celebrating a journey of family, hope, scientists and philanthropy to treat myotubular myopathy in Phase 1 clinical trials, Part 1

Dr. Martin ChildersIf you are a parent you already know the guts, fortitude, desire and village it takes to raise a child from milestone to milestone to adulthood.  Imagine your child is born with a fatal genetic disease affecting the function of all his skeletal muscles.  Meet Alison and Paul Frase, their daughter Isabella, and finally their son Joshua who was born with myotubular myopathy.  If you remember anything about their story, I want you to remember the power of passionate parents working with brilliant, dedicated scientists who tenaciously act and hope for a cure through biomedical research.

The genetic villain in the story is the MTM1 gene, where mutations cause total loss of function in the myotubularin gene.  This gene normally makes an enzyme, myotubularin, which is thought to create and maintain muscle cells.  Kind of important. So when the gene cannot make this enzyme, people (and animals like dogs) experience muscular “floppiness,” breathing issues, feeding issues and scoliosis to name a few.

If you are a scientist, like Dr. Martin Childers, you also know the guts, fortitude, desire and village it takes to conduct research…especially research you hope will treat devastating genetic diseases like the one that affected Joshua.

The Frases, Dr. Childers and other folks have partnered to do something about myotubular myopathy in animals and people.  NWABR is honoring their work at the Speak Up for Research Gala this year.  Want to know more?  Stay tuned for the May newsletter and register for the Gala on May 24th.

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