Weekly Spotlight - 17.10.24

In the News

Promising Advances in Friedreich's Ataxia Treatments at 2024 Symposium

The 2024 Friedreich's Ataxia Symposium highlighted promising new treatments, offering hope to families affected by the disease. Pharmaceutical companies discussed advancements, including Biogen's trial for Skyclarys and Larimar's study on nomlabofusp. Despite the slow pace, the potential for two approved medications brings optimism for the future.

Papillon's PPL-001 Gains FDA Rare Pediatric Disease Status

Papillon Therapeutics has received Rare Paediatric Disease designation from the FDA for PPL-001, aimed at treating Friedreich's Ataxia. This designation could lead to a priority review voucher, accelerating their pipeline. PPL-001, a gene-corrected therapy, shows promise in reversing disease progression, offering hope to affected families.

Webinar Highlights FA Patient-Caregiver Collaboration and Support

The upcoming webinar on 6th November focuses on the collaboration between Friedreich's Ataxia patients and caregivers. Hosted by Friedreich's Ataxia News, it aims to enhance communication and support within the community. The event features patient and caregiver panelists sharing experiences and strategies for managing daily challenges.

Exploring Japan: A Journey of Accessibility and Cultural Richness

Matt's trip to Japan was transformative, overcoming travel challenges due to Friedreich's Ataxia. He found Japan's culture welcoming and accessible, from Tokyo's bustling streets to serene Kyoto. The journey, including a visit to Hiroshima, offered perspective and confidence, encouraging future adventures and sharing experiences with the Ataxia community.

Oxford-Harrington Rare Disease Centre

David Cameron: Britain's Role in Advancing Rare Disease Treatments

David Cameron's article in The Times highlights Britain's potential to lead in treating rare diseases through genomics. Inspired by personal tragedy, Cameron reflects on the loss of his son Ivan to Ohtahara syndrome, a rare condition. He notes the rapid advancements in genomics since the early 2000s, when sequencing a genome was costly and time-consuming. Today, it is affordable and quick, enabling personalised medicine. Cameron's 100,000 Genomes Project marked a significant step in this field, and now, Genomics England and the NHS plan to sequence 100,000 newborns' genomes to identify rare diseases.

Cameron announces his role as chair of the Oxford-Harrington Rare Disease Centre's advisory council, a partnership aiming to develop 40 new treatments for rare diseases in the next decade. He emphasises Britain's strengths: a history of DNA research, a national health system, and a robust venture capital industry. Coupled with US expertise, this partnership is poised for breakthroughs in genomics.

The implications are vast. Genomics can help millions globally, as 80% of rare diseases have a genetic basis. Understanding one condition can unlock insights into others, including common killers like cancer and heart disease. Gene therapy, where Britain excels, offers potential to correct genetic defects, lessening or reversing conditions.