Description: We are a parent run organization whose mission is to find a cure for myopathy caused by caused by an inborn disorder of purine metabolism in muscle cells due to mutation in the ADSS(L)1 gene. We are working with various Academic and Clinical researchers to discover potential therapeutic options including gene therapy.
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We are working with leading medical researchers and rare disease experts to develop a treatment for patients with neuromuscular disease caused by an inborn error of purine metabolism due to mutation in the ADSS(L)1 gene.
We are a parent-run non-profit organization with the mission to find a cure for ADSS(L)1 Myopathy, a rare neuromuscular disease caused by an inborn error of purine metabolism due to mutation in the ADSS(L)1 gene. Our dedication for finding a cure stems from a personal place, as both our son and daughter have been diagnosed with this devastating disease.
ADSS(L)1 Myopathy is a rare genetic disorder that causes muscular weakness right from birth and onset of rapid progression as affected individuals enter their teen years. The impact of this disease is devastating, causing failure in muscle function over time, leading to loss in mobility in the arms and legs. It also has grave impact on lungs and heart function. As there are less than 200 known patients worldwide, this disease falls below the “profitability margin” for any pharmaceutical company to pursue a