SMC3 mutations, comprising less than 2% of CdLS cases, are less understood. Funding research for SMC3-CdLS, particularly the A485del mutation, is crucial for advancing treatment.

GOALS

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  • Create SMC3-CdLS animal models (especially one that mimics the A485del mutation)

  • Characterize the phenotype of a SMC3-CdLS animal model with respect to:

    • Structural or functional abnormalities, including similarities or differences with existing NIPBL-animal models.

    • Whether the causal SMC3 mutant allele behaves as a loss-of-function or gain-of-function allele, and the extent to which SMC3 is a haplosufficient gene. 

    • Molecular pathways that are dys-regulated in SMC3-CdLS  (e.g. transcriptional abnormalities, disruptions of signaling pathways)

  • Investigate therapeutic approaches that can potentially be borrowed and tested from other transcriptomopathies (e.g. gene editing, gene replacement, protein replacement, RNA editing, RNA trans-splicing, etc)

  • Investigate the effects of pharmacological agents  (e.g. HDAC inhibitors, WNT activators, etc) on SMC3-CdLS animals or cells.

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  • Identify relevant signals or pathways that could be affected by drugs.

  • Identify cells in which genetic intervention (e.g., gene editing, antisense oligonucleotides, etc.) would need to be carried out to achieve therapeutic benefit.

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  • Use models of SMC3-CdLS for pre-clinical research to test potential pharmacological or genetic interventions (Anti-sense oligos, CRISPR etc)

Your Support Can Pave the Way

Your donations are pivotal in jump-starting this innovative research, providing hope not just for Vihaan but for all children with CdLS. Help us unravel the mysteries of SMC3-CdLS and explore new treatment avenues.