Early diagnosis often means early intervention and potentially life changing patient outcomes. Funds raised by the Mission Massimo Foundation support i) targeted sequencing panels for rapid diagnosis of known childhood leukodystrophies and ii) whole exome / genome sequencing of familial trios and clusters of affected patients, obtained from approved bioregistries, to identify new pathogenic mutations for unclassified childhood leukodystrophies. All validated mutations for newly classified disorders will be made freely available for inclusion on future screening panels.
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EWACS (EARLY WARNING AND CONTROL SYSTEM)
Venienti Occurrite Morbo | Confront Disease At Its Onset EWACS utilises a comprehensive sequencing panel providing coverage of > 4,800 clinically relevant genes for rapid diagnosis of many known childhood leukodystrophies. The Mission Massimo Foundation provides support to families unable to access this technology through public health or private health insurance. |
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PRISM
Tres Faciunt Collegium | Three Makes Company PRISM utilises the latest whole exome / genome next generation sequencing technology for the most comprehensive genetic analysis of unclassified childhood leukodystrophies. It is intended to aid in the identification of inherited and de-novo cases of single-gene aetiology (Mendelian diseases). There are roughly forty-five known variants of childhood leukodystrophies, but sadly 50% of cases remain genetically unclassified offering little hope of treatment, an unknown future and an almost certain tragic outcome. Our goal it to reduce the number of unclassified cases to less than 10% by 2020 using this technology |