Gene therapy targeting amyloid pathology and neurodegeneration in down syndrome
Innovative gene therapy using antisense oligonucleotides to target and normalize specific proteins associated with Alzheimer's Disease in individuals with Down Syndrome, aiming to delay or prevent the disease progression.
Overview
This research proposes an innovative gene therapy targeting Alzheimer Disease (AD) in individuals with Down Syndrome (DS), who are at a high risk due to the triplication of Chromosome-21. The therapy aims to normalize the expression of three proteins—GNPDA1, FAM91A1, and LRRFIP—that are upregulated in trisomic cells and linked to amyloid-dependent pathogenesis. By using antisense oligonucleotides (ASOs), the therapy seeks to intervene in the amyloid cascade, potentially delaying or preventing AD onset.
Technical specifications
Key features:
- Targets GNPDA1, FAM91A1, and LRRFIP proteins using sequence-specific ASOs.
- Aims to reduce neuroinflammation and metabolic dysregulation associated with AD.
- Employs proteomic, biochemical, and morphological analyses to evaluate treatment efficacy.
- Initial studies utilize human cortical cultures derived from trisomy-21 specimens.
Technology readiness level
This gene therapy approach is at Technology Readiness Level 3, indicating that it is in the experimental proof of concept stage. Preliminary tests have confirmed the feasibility of using ASOs to target the specified proteins in vitro, with future studies planned to advance translational applications.
About University of California, Irvine
UC Irvine is a comprehensive public research university in the University of California system, known for large-scale research and a collaborative, cross-disciplinary culture. Industry engages through an adjacent research and technology park, an on-campus innovation hub that co-locates startups with corporate teams, and access to shared core laboratories across campus. Integration with a major academic health system provides pathways for clinical collaboration and translation. Research is supported by competitive federal funding from agencies such as NIH, NSF, DOE, and DOD, alongside state and industry partnerships. A central technology transfer office streamlines IP, licensing, and startup formation.
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