“Only 5% of all rare conditions have an authorised treatment and many affected children don’t survive until five years of age. This fragile ecosystem has been shattered further due to COVID-19 and the global response to it. Patients have gone undiagnosed as genomics clinics closed and health professionals were redeployed.”
Contrary to the isolation of lockdown, a vibrant and vital new collaboration emerged. Action for Rare Disease Empowerment (ARDEnt) is a cross-sector coalition of 30 UK-based experts involved in rare diseases. Concerned at the impact of COVID-19 on those affected by...
Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for his children’s rare neurological diseases. Here he gives us a deeper look at how genomic medicine is evolving and the barriers that are preventing it from reaching its full potential.
Jo Balfour, one of the founding members and current Operations Manager at Cambridge Rare Disease Network (CRDN), has collaborated with Medics4RareDiseases and Rare Revolution Magazine to bring together a cross sector group of experts and advocates newly named ARDEnt (Action for Rare Disease Empowerment) to produce a report called “Future Proofing Rare Disease Care, Research, and Treatment.” The report aims to highlight the risks, gaps and opportunities presented by COVID-19 for the rare disease community.
Isolation is common amongst those affected by rare disease. Disease specific and umbrella organisations provide vital services and connect isolated patients, but can regional grassroots communities play their part?
As Rare Disease day 2020 approaches, we take a look at the biggest challenges facing orphan drug developers and ask whether the future is bright or bleak for these difficult conditions.