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Pioneering Rare Disease Strategies

Inspiring pharmaceutical rare disease insights, thought leadership and tools

Working in the rare disease sphere as a pharmaceutical professional presents unique emotional challenges, yet offers immensely fulfilling rewards as you become part of rare disease communities and they become part of yours.

With extensive experience collaborating with global pharmaceutical teams across our diverse service areas for a number of rare disease projects, Uptake’s experts are equipped to effectively guide teams in their journey to truly impact patients’ lives. Through engagement with patient advocacy groups, strategic storytelling, and meaningful customer interactions, our experts support our clients in their missions to ensure that under-represented patient groups receive the necessary treatments and diagnoses to improve patient outcomes.

Navigating the landscape of rare diseases demands a profound understanding of the responsibilities that come with working in this space, as well as the ability to carefully deal with intricate and sensitive issues patients face.

Introducing a new product or drug in this arena isn’t your everyday feat, so in this pack, experts from across the consultancy have shared their invaluable insights and experiences, underpinned by evidence, along with actionable steps to steer your rare disease journey successfully. Alongside our thought leadership, you will discover 29 rare diseases, deepening your understanding and awareness of rare conditions, and gaining insight into their impact on patients and the advocacy efforts required to learn how they affect patients, their bodies and the change needed to make a difference.

Grab your free resource pack, and start making a difference to patients’ lives!

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What’s included in the Rare Disease Spotlight resource pack?


Part 1: Uptake’s rare disease advocates: Broaden your knowledge

In our commitment to support and champion the united efforts for Rare Disease Day awareness, Uptake advocates for our clients and the broader pharmaceutical industry to prioritise advancements in treatments to provide hope and healing for rare disease patients.

Discover more!

Part 2: Mastering the art of rare disease launches: Your guide to success

Now, let’s make a difference:

You have improved your knowledge in part one and have been inspired to positively impact patients’ lives.

If you are part of a pharmaceutical team on a mission to launch innovative treatments that provide hope, change, and advancements for rare disease patients, dive into part two. Here, you’ll find insights from Uptake’s rare disease and launch experts, uncovering the five crucial components for successful rare disease launch strategies, ensuring patient collaboration is integrated every step of the way!

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Part 3: Leave your ego at the door: In conversation with Deborah Lough, Principal

Deborah Lough is one of Uptake’s highly experienced Principals, with a pharmaceutical career spanning 20 years across senior medical, marketing, commercial and transformation roles.

Debbie joined us on the Uptake sofa to share the deep impact of her career, highlighting the profound privilege of introducing new therapies to the market for rare diseases, all driven by the aim of positively impacting patients’ lives.

Discover more about Debbie’s invaluable insights and the most important skills to adopt when working in the rare disease space.

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Part 4: Case Study – Harnessing the power of omnichananel strategies to transform rare disease customer engagement

Unveil the transformative journey of a UK Rare Disease Team as they harness the power of omnichannel strategies to transform customer engagement. Dive into our case study to discover how Uptake’s specialised expertise propelled this team towards success, overcoming unique challenges and paving the way for impactful patient care.

Read now to witness the inspiring collaboration and structured approach that drove scaled engagement, integrated teams, clarified roles, and embedded agility, ultimately reshaping the landscape of rare disease customer engagement.

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Get in touch

Deborah Lough


Jo Lopez

Practice Lead – Early Commercialisation and Launch

Stephanie Hall

Founder & CEO

Maxine Smith

Managing Director

Contact our Rare Disease and Launch healthcare consultancy experts on