Where the money goes
Monies raised will go towards funding the following projects.
Complete Genome Sequencing of Global FA population
The ability to sequence DNA will greatly accelerate medical research and discovery. Information obtained using sequencing allows researchers to identify potential drug targets.
- Complete whole exome sequencing including DNA methylation
- Use data to identify genetic modifiers, protective pathways, and risk factors
- Aggregate all data in an open source architecture for entire FA community
FA Gene Editing Initiative
Current gene editing technologies may allow us to "cut" out the repeat associated with Friedreich's Ataxia.
- Partner with the best in industry to focus CRISPER/Cas9 technology on FA
- Develop alternate delivery methods for delivering genes i.e. nanoparticles
- Utilize CRISPR technology to advance animal models
Neurological Stem Cell Consortium
Stem Cells have the potential to regenerate motor neurons within the body to help regain muscle function.
- Developing standardized protocols for stem cell creation
- Expand the use of stem cells in disease modeling and drug discovery
- Develop and advance to clinic stem cell therapies for FA
Continued funding of CHOP/UPenn Center of Excellence
The COE at CHOP/UPenn has enabled the worlds best in FA to collaborate, research, study, and extend the lives of FA patients.
- Invest in broader mouse model facility for quicker proof of concept work
- Continue developing and bank more iPS cell lines for broader FA science community
- Transition drug discovery assets into commercial drug development companies
Friedreich's Ataxia Imaging consortium
We believe cutting edge imaging to be a valuable tool in clinical trials and evaluating drug efficacy.
- Set up protocols for FA imaging techniques across the field
- Develop brain, heart, and metabolic imaging process
- Validate imaging techniques as biomarkers for disease