Skip to main content
Home » Rare diseases » Partnering with patients on their rare disease journey

Jonathan Whitton

Senior Medical Director, Bionical Emas

As more rare diseases are diagnosed, it’s becoming vital for patients and their families to receive guidance and advocacy in their search for effective treatments.

Rare diseases are defined as affecting less than 1 in 2,000 people in the UK. Due to advances in diagnostics, there are more rare diseases being discovered every day. This presents a challenge for patients and their families, who are seeking the best medical care possible. 

Giving people living with rare diseases a voice 

As a former paediatric surgical registrar and Senior Medical Director at Bionical Emas, Dr Jonathan Whitton and his colleagues can understand the challenges facing people living with a rare disease and their families, and the need to partner with them on their journey, towards effective therapies.  

“In many ways, a person living with a rare disease has the deck stacked against them,” he explains. “They are often diagnosed late, due to unfamiliarity of healthcare professionals with rare diseases and more common diseases being ruled out first, or their concerns being dismissed. The frequency of rare diseases leads to further isolation, meaning patients and their families can’t always reach others to discuss their conditions and learn about the latest therapies available.”  

“Our medical affairs team include rare disease patient advocacy specialists who have either worked with people living with rare diseases or have a family member diagnosed with a rare disease. This support framework and expertise allows us to partner with patients and represent their needs in the pharmaceutical sector more effectively.” 

The frequency of rare diseases leads to further
isolation, meaning patients and their
families can’t always reach others.

Improving patient quality of life and drug development 

Bionical Emas combines clinical development, early access programmes and clinical trial supply to bring life-changing medicines to patients around the world. Their vision is to maximise access and evidence generation across the entire clinical development pathway, positively impacting current and future patients. As advocates for rare diseases, they liaise with pharmaceutical companies, regulatory bodies and clinical healthcare authorities.  

Dr Whitton explains: “Clinical development plans need to consider the whole patient journey, the overall burden faced by people living with the rare condition and how this impacts societal contribution to healthcare economics. For example, treating the patient may mean they are less likely to require hospitalisation as a child and can gain more from the education systems that they are a part of.” 

By partnering with the patient at the beginning of the clinical development process, Bionical Emas aims to provide the effective representation of the patient to both the healthcare professionals and the pharmaceutical companies to enable this and benefit both the speed and quality of drug development.  

Next article