There are several reasons why this project is so critical. This database will serve to:
1) Increase our understanding of RYR-1-related diseases: RYR-1-related diseases are a rare disease, although likely not as rare as some believe. RYR-1 gene related abnormalities have been associated not only in congenital myopathy, but also malignant hyperthermia, intolerance of certain cholesterol lowering drugs ("statin myopathy"), and exercise intolerance. Building a patient database will allow physicians, researchers, and genetic counselors to better understand the different forms of RYR-1 myopathy, its natural history, and its prevalence.
2) Conduct clinical trials: As a rare disease, RYR-1-related diseases can present a challenge to researchers, pharmaceutical companies, and biotech firms who want to test potential therapies. Without easy access to patients who can serve as study subjects, clinical trials cannot be performed. And without clinical trials, hope for a cure is lost. Thus, by developing a database of RYR-1-related diseases patients, we can collaborate with those who have found potentially promising therapies.
3) Find a cure: This is the ultimate goal of the Foundation. As mentioned above, without clinical trials to test potential therapies, finding a cure is highly unlikely. If you or a family member has (or is suspected to have) an RYR-1-related disease, please contact us.
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