Weekly Spotlight - 17.10.24

In the News

SMA Progression: New Insights and Challenges in Treatment and Diagnosis

The article discusses advancements in Spinal Muscular Atrophy (SMA) care, highlighting the importance of newborn screening and new treatments. Experts address challenges in diagnosis, treatment sequencing, and the need for better biomarkers. The focus is on refining care approaches and understanding long-term effects of therapies for SMA patients.

Roche's Evrysdi Shows Promising Results in Treating SMA

Roche's Evrysdi shows promising two-year results in treating Spinal Muscular Atrophy (SMA) in infants. The RAINBOWFISH study reveals significant developmental milestones achieved by children treated pre-symptomatically. Evrysdi, a non-invasive treatment, enhances SMN protein production, improving motor and cognitive functions, and is approved in over 100 countries.

Optimizing Treatment Access in SMA: Navigating Timing and Outcomes

The article discusses optimising treatment access for Spinal Muscular Atrophy (SMA) through newborn screening and collaboration between healthcare providers and families. It highlights the importance of efficient diagnosis, early treatment, and overcoming regulatory challenges, emphasising the need for a coordinated approach to improve patient outcomes.

Cure SMA Introduces New Travel Resources for Easier Accessibility

Cure SMA has launched a new travel resources webpage and support package to aid individuals with Spinal Muscular Atrophy (SMA) in travelling more comfortably. The initiative includes guides, webinars, and assistive equipment, supported by sponsors like Biogen and Genentech, aiming to improve accessibility and safety for SMA travellers.

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.