Team Elle

In 2023, we can seize opportunities that have emerged from the remarkable progress we’ve seen in recent months:

• Biologists collaborating with each other have gained new insights into how neuroinflammation driven by specific brain cell types may contribute to the brutal deterioration experienced by A-T children.
• Geneticists applying new gene-blocking technologies on a massive, genome-wide scale have revealed specific proteins that can be targeted by drugs to treat A-T and then drawn on whole genome sequencing data from A-T children to validate those targets.
• Scientists using robot-assisted drug-screening approaches have identified chemical compounds developed for other diseases that may be repurposed to help with A-T (and could have a much shorter path to regulatory approval for A-T).
• Neurologists, engineers and machine learning experts have developed technologies such as wearable devices and eye-tracking methods to measure symptoms more precisely than ever.
• Physicians and geneticists who have been testing an antisense oligonucleotide gene therapy in a child with A-T have developed additional, custom-designed ASOs for other mutations across the A-T gene and are now testing them in cells from A-T children.
• Experts analyzing blood and spinal fluid have begun finding surrogate markers that could track disease progression, enabling us to tell more objectively, precisely and quickly if a drug is working in a clinical trial.

To aggressively follow up on these achievements, we need to orchestrate scientific conferences and workshops, identify more A-T children worldwide, test new strategies in model systems, and complete “proof-of-concept” gene-editing and gene-delivery experiments (that address all mutations seen in A-T children) so that not only academic researchers but cutting-edge companies advancing new DNA-focused technologies will become interested in pursuing A-T.

We believe that, over the years, your donations have enabled us to “punch above our weight” as a tiny but passionately driven organization, producing significant results. Today, we often find ourselves being asked to advise other non-profits on how we do things. And importantly, the willingness of our A-T families to do anything asked of them, combined with the research tools we have put in place, has given us some early success in capturing the attention of industry players who have the drug development experts to help us.

But scientific research never moves quickly enough for our A-T children, and so we need your continued support. Thank you for blazing the trail with us.