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Accelerating cures for rare childhood diseases using iPSC models

Speaker

Abstract

Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potential drug repurposing and seed new drug development programs where there is a great unmet medical need. Currently approximately 8,000 rare diseases have been identified that affect close to half billion people world-wide of which only 5% have available therapies.   More than half, hundreds of thousands, of children have rare disease of which 30% die before their 5th birthday.  Two main challenges are 1) access to genetic sequencing and 2) if sequencing is available only 30-50% of the time the etiology is identified that leads to clinical intervention. Even with identification of a causal gene, understanding how the gene, gene variants and variants in concert with other genomic mutations change biology and lead to a clinical phenotype is needed.  In the first step, there is a need to find a critical number of families with the same rare disease which necessitates searching for them around the globe.  Secondly, the creation and use of iPSC lines once families have been identified enable validation of variance of significance through techniques such as gene editing in addition to revealing causal biological pathways. This methodology can accelerate identification of therapeutic options in the immediate addressing the urgency needed in addition to seeding longer term new targeted drug development programs.                                                           


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Accelerating cures for rare childhood diseases using iPSC models



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