For the 300 million people around the world who are living with a rare disease, they and their families face common challenges in their daily lives. The rarity of each individual disease means that people with rare diseases face difficulties in accessing health care and are more likely to experience misdiagnosis, lack of treatment and isolation.

This year, a key focus of Rare Disease Day on 28 February is equity – to recognize that everyone deserves equitable opportunities and access to health care. By working together, stakeholders in the community can help break down barriers and potentially change the landscape for the millions of people living with a rare disease.

Here at Comradis, we are passionate about health equity for the rare disease community and are supporting Rare Disease Day 2023.

In an exciting new study, researchers at Great Ormond Street Hospital in London have employed wearable motion tracking devices and artificial intelligence (AI) technology to estimate disease progression in patients with Duchenne muscular dystrophy (DMD). Clinical assessment of patients with neurological diseases often relies on subjective and qualitive endpoints that can be open to observer bias. This method, which utilized technology more commonly used to translate the movements of actors into life-like animated characters in films such as Avatar, captured patients’ whole-body movement behaviour to create a fuller picture of their disease, identifying patterns which would otherwise be undetectable by standard methods of assessment.

This technology has the potential to dramatically reduce time to diagnosis meaning that patients receive support and treatment quicker. Its applications may also extend to a clinical trial setting where it could be used to track response to new therapies, shorten the duration of trials and reduce the sample size required.

Here at Comradis, we are passionate about new technology and its potential applications in rare diseases such as DMD.

The 40th anniversary of the Orphan Drug Act represents a significant milestone for the rare disease community. In January 1983, the then-President of the United States of America, Ronald Reagan, signed the act into law, leading to significant advances in research, development, innovation, treatment and support for the rare disease community in the proceeding 40 years.

The National Organization for Rare Disorders (NORD) was formed in the same year as the Orphan Drug Act by the very advocates who lobbied for the act’s creation. As they also reach their 40th anniversary, it is important to acknowledge NORD’s momentous achievements in raising awareness of rare diseases and their ongoing support of the rare disease community.

As a medical communications agency focused on rare diseases, we celebrate these significant milestones and advocate the continued support of the rare disease community in the future.