Breakthrough month in September for a rare disease
October 01, 2016
EVENT: Seattle Marathon
EVENT DATE: Nov 27, 2016
On November 27th, members of my laboratory team will be running the Seattle Marathon alongside our good friend and former NFL defensive lineman, Paul Frase. Not only will I be training like crazy for this 26 mile run, but more importantly, I’m going to leverage all that training and hard work to help raise money for the Joshua Frase Foundation. I'm reaching out to everyone I know to help me raise $10,000 for this cause. Any amount you can give is so appreciated. Please give what you can. It'll take you about ten seconds. Here are some quick facts about my cause... Paul’s late son, Joshua, passed from a rare inherited disease called Myotubular Myopathy (MTM). At the time of his birth, only about 50 cases of this disease where identified. We now know that thousands of these cases exist, but less than half of these babies with MTM will survive to reach their first birthday. MTM is a rare, and fatal, muscle disease. But we have found a cure. Yes, a cure for MTM. The cure involves a way to fix a defective gene, called “gene therapy”. We have tested this gene therapy successfully in animals with the same inherited disease – and found long-lasting benefit. In 22 years of medical research, I never thought that I would see the day that I could say this. This is a watershed moment for our research team and for those affected by MTM. Why is finding a cure for this rare disease so important? Because the MTM is a PROTOTYPE MUSCLE DISEASE – a form of muscular dystrophy – and we now have a template to follow for other inherited diseases like MTM. 1 and 10 Americans have a rare disease, and the vast majority of these diseases are caused by defective genes. Please help my team of scientists continue their work on rare diseases like MTM.