Welcome to Cure ADSSL1's research hub, where we are committed to advancing scientific understanding and developing effective treatments for ADSS1 deficiency, a rare purine metabolism defect. Explore our research tools, ongoing programs, and current priorities.

Research Tools

We have developed pre-clinical research tools in collaboration with our research collaborators that are available for sharing with researchers interested in studying inborn error of metabolism, ADSS(L)1 deficiency.

Animal Models

  • ADSS(L)1 Knockout Mouse model
  • ADSS(L)1 Knockin Mouse model
  • ADSS(L)1 deficient C. elegans model

Cell Models

  • Patient-derived iPSC lines: Disease-in-a-dish model development in progress
  • Patient-derived Fibroblasts: Available at Coriell biobank repository

Research Programs

Discover our ongoing research programs, each designed to make significant strides in understanding and treating ADSS1 deficiency.

1. Small Molecule Drug Development

  • Currently undergoing testing in C. elegans and cell models.

2. Drug Re-pursposing

  • Disease characterization in cell models in progress.
Drug Repurposing

3. Gene Replacement Therapy

  • Disease characterization in progress at Dr. Beggs Lab, Boston Children's Hospital.
Gene Replacement Therapy

Current Research Priorities

  • 1. Disease characterization in animal and cell models.
  • 2. Studying the underlying disease mechanism resulting from the imbalance of purine metabolism.
  • 3. Identification of biomarkers.
  • 4. Pre-clinical work for small molecule drug testing in animal and cell models.
  • 5. Pre-clinical work for gene therapy testing in animal and cell models.
  • 6. Natural history study.

Completed and Upcoming Studies

Explore our recent publications and upcoming studies:

Published Studies (2023):

Upcoming Studies:

  • Patient and Caregiver Experience.
  • Natural History Study.

Other key scientific papers related to ADSSL1 myopathy

For inquiries or collaboration opportunities, please contact us. Thank you for supporting our mission to cure ADSSL1 deficiency. Together, we can make a difference.