Driving innovation in rare diseases: Digital health and collaboration

In recognition of Rare Disease Day, Dr Kamran Iqbal, head of medical affairs and patient advocacy in global rare diseases at Chiesi UK, discussed with pharmaphorum the company’s evolving role in rare diseases, the potential of digital health, and the importance of collaboration in driving innovation.

Dr Iqbal shares his insights into how Chiesi is working to shorten diagnostic journeys, enhance patient support, and advance scientific research. He also reflects on this year’s Rare Disease Day theme, More than You Can Imagine, and explores how technology and strategic partnerships are shaping the future of rare disease care.

Why is Rare Disease Day important to you and to Chiesi?

Rare Disease Day is more than just a date – it is a reminder that every patient’s story is unique and deserves dedicated support. For me and for Chiesi, it represents a commitment to standing with patients, families, and caregivers while driving forward real, practical solutions.

For example, our ‘Living Well with Fabry’ shared decision-making toolkit – developed from insights at last year’s Fabry Matters conference – helps clinicians and patients communicate more effectively, with a focus on pain, fatigue, and gastrointestinal issues.

We also support scientific advancement through targeted grant programmes, such as findforrare.com, to ensure ongoing research in Fabry disease, alpha‐mannosidosis, and nephropathic cystinosis. These efforts reflect our commitment to making a tangible impact by advancing science with the aim of improving patient care.

The theme for Rare Disease Day this year is More than You Can Imagine. What does this mean to you?

This year’s theme, More than You Can Imagine, highlights both the immense potential ahead and the challenges that remain. It is more than just a recognition of progress: it is a call to action, emphasising the need for a holistic approach that not only supports medical needs, but also shortens the diagnostic journey and addresses the emotional and social challenges patients face.

In my role, I see this theme as a reminder of the importance of collaboration and innovation in pushing for meaningful solutions. While significant strides have been made, there is still much more to do – both as an industry and as a society. This theme encourages us to push boundaries and drive innovation, ensuring that solutions continue to evolve to meet unmet needs.

Chiesi has been working in rare diseases for five years now. What have been the key developments during this time?

Over the past five years, we have built a strong foundation in rare diseases through a combination of patient-focused initiatives and strategic growth. Our efforts have focused on improving access to healthcare in the UK and Ireland, while also supporting educational initiatives, such as motivational interview training for nurses, to help healthcare professionals better engage with and support patients.

We have expanded our capabilities through strategic acquisitions and partnerships with companies like Amryt, Apopharma, and Santhera, enabling us to better support patients with rare diseases.

Additionally, Chiesi has supported scientific advancements through the provision of arm’s-length medical grants; for instance, recently to Guilford Street Laboratories, to support the development of their anti-drug antibody platform – an innovative tool aimed at advancing precision medicine in rare disease care.

What potential does technology hold for rare diseases?

Technology is a game-changer. It can shorten diagnostic journeys, personalise care, and connect experts across borders.

Digital innovations enable us to translate data into actionable solutions. For example, in our upcoming webinar fully funded by Chiesi Global Rare Diseases, ‘Enabling Digitally Enhanced Care for Rare Diseases in Europe’ – led by experts in the field, including contributions from Alessandra Vignoli, vice president of regional portfolio strategy AIM at Chiesi Global Rare Diseases – we discuss first-hand how integrating AI, telemedicine, and connected care technologies can refine patient journeys in Lysosomal Storage Disorders. This webinar will soon be available on your pharmaphorum platform.

By harnessing technology, we are not just keeping pace with innovation; we are contributing to a future where precision and connectivity drive better outcomes.

What is your vision for Chiesi’s role in rare diseases in the future?

I envision Chiesi as a proactive leader driving innovation and collaboration within the rare disease community. Our goal is to bridge the gap between research and everyday patient care by fostering an ecosystem where clinical insights, advanced technology, and strategic partnerships come together.

By investing in initiatives such as our ‘Living Well with Fabry’ toolkit, expanding access to resources across markets, and strengthening collaborations, we are laying the groundwork for a future where every patient benefits from holistic, precision-driven care.

Our vision is clear: to empower patients and caregivers with the knowledge, tools, and support they need – creating a lasting impact that is truly more than you can imagine.

About the interviewee

Dr Kamran Iqbal is head of medical affairs and patient advocacy in global rare diseases at Chiesi UK. Dr Iqbal graduated from St Georges Hospital Medical School in 2003 with a BSc in Basic Medical Sciences. Since graduating, he has been a member of the Royal College of Physicians (UK), and has gathered clinical experience across various specialities including general medicine, nephrology, dermatology, and cardiology. Dr Iqbal made the move to the pharmaceutical industry in 2012 and joined Chiesi UK as head of medical affairs for the rare diseases portfolio in 2023.