Gene dosage

Jaya Biosciences Presents Updated Preclinical Data in Alzheimer’s Disease at the 45th SIMD Annual Meeting

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화요일, 4월 16, 2024

During a podium presentation, Jaya Biosciences’ scientific founder and science advisory board chair, Professor Mark Sands, reported on recently updated human genetic analyses suggesting that heterozygous loss-of-function mutations in lysosomal enzyme genes are enriched in Alzheimer’s disease (AD) patients.

Key Points: 
  • During a podium presentation, Jaya Biosciences’ scientific founder and science advisory board chair, Professor Mark Sands, reported on recently updated human genetic analyses suggesting that heterozygous loss-of-function mutations in lysosomal enzyme genes are enriched in Alzheimer’s disease (AD) patients.
  • This new analysis generated from a much larger whole genome sequence database confirmed their previous human genetic findings from a smaller whole exome database.
  • “The updated human genetic data confirmed that heterozygous deleterious mutations in a subset of lysosomal genes are enriched in patients with Alzheimer’s disease,” said Prof. Mark Sands.
  • For more information about the 45th SIMD Annual Meeting, please go to SIMD2024 Meeting .