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Recent Ad Hoc Grant: ZEPIKActive - dCas9 activator for KMT2D function restoration

KABUKI SYNDROME FOUNDATION

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Funding Amount

$45,132.96

Deadline

Rolling / Open

Grant Type

foundation

Overview

ZEPIKActive: Use of dCas9 Activator to Restore Normal KMT2D Function

Funder: Kabuki Syndrome Foundation

Award Date: March 2025

Award Amount: $45,132.96

Status: Recently funded

Overview

This study explores whether dCas9-activated transcription can compensate for KMT2D haploinsufficiency in Kabuki syndrome type 1.

    Research Focus

  • Kabuki syndrome type 1 (KS1) caused by KMT2D mutations
  • Impaired H3K4 methylation and disrupted gene activation
  • Use of dCas9 (catalytically inactive Cas9) with transcriptional activator VP60
  • Upregulation of wild-type KMT2D allele in zebrafish model of KS1
  • Development of novel gene activation-based therapy for KS

    Researchers

  • Dr. David Geneviève, MD, PhD
  • Dr. Farida Djouad, PhD
  • Dr. Jean-Christophe Andrau, PhD
  • Dr. Kyle Fink, PhD

Contact

Email: info@kabukisyndromefoundation.org Address: P.O. Box 214, Northbrook, IL 60065

Focus Areas & Funding Uses

Fields of Work

science-research

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