Rare Disease Day is a time to shine a light on the 300 million people worldwide living with rare diseases. It’s also an opportunity to reflect on the concept of “transformation” – whether through groundbreaking medicines being developed, artificial intelligence (AI) revolutionising drug development, or social media and digital channels redefining communication and support for rare disease communities.
Transformations in treatment
In recent years, we’ve seen incredible progress in the development of transformative medicines for rare diseases. Currently, over 1,000 new drugs are in development globally for rare conditions, offering hope to patients and families who previously had no treatment options. Gene therapy and mRNA-based treatments have become key drivers of this transformation, addressing the root causes of diseases rather than just symptoms.
Rare diseases account for approximately 47% of the FDA’s breakthrough therapy designations, highlighting the industry’s commitment to innovation. These advances represent not just new treatment possibilities but life-changing transformations for patients and their families.
Transformations in drug development
AI is revolutionising drug development, especially for rare diseases, where traditional methods often face challenges due to limited patient populations and data. By harnessing AI, researchers can identify promising drug candidates more efficiently, model disease pathways, and predict outcomes with incredible speed and accuracy.
For example, AI-powered platforms have reduced the timeline for early-stage drug discovery from 4–6 years to just 1–2 years, allowing life-saving therapies to reach patients faster.
AI also helps identify new uses for existing drugs, a technique called drug repurposing, which can rapidly open new avenues for treatment. For rare diseases, where the clock is often ticking for patients, these technological advances represent a beacon of hope.
Transformations in community support
Social media and digital platforms have transformed how rare disease communities connect. In the past, many families faced their journeys in isolation. Today, platforms like Facebook, Instagram and TikTok are fostering vibrant communities that provide emotional support, resources and advocacy.
For patients and caregivers, these platforms are a vital lifeline, offering instant access to global networks of individuals facing similar challenges. Meanwhile, digital campaigns, such as Rare Disease Day’s global movement, unite voices worldwide to raise awareness and drive policy change.
Pharma companies are also embracing digital channels to connect directly with patients. By hosting virtual forums, sharing educational content and leveraging influencer partnerships, they’re bridging the gap between treatment developers and the communities they serve.
Transforming together
As specialists in transformative medicines, we at Cognite are proud to be part of this journey. From raising awareness to supporting the launch of groundbreaking therapies, we’re dedicated to making a difference for those impacted by rare diseases.
Rare Disease Day reminds us of the power of transformation – in science, in communication, and most importantly, in the lives of patients. Together, we can drive progress and continue to innovate in the rare disease space.
Please reach out to our Chief Business Officer, Sean Cush, if you’d like to explore working together.