The International Rare Disease Showcase 2022

by | Apr 8, 2022 | Blog, Findacure events, Findacure events|Rare disease world

At the beginning of February 2022, Beacon: for rare diseases held its ninth Rare Disease Showcase. This was our first International Showcase and we welcomed 449 attendees and 53 speakers from over 20 countries. A huge diversity of stakeholders from the rare disease community came together to discuss recent developments in the field and exciting prospects for the future. It provided attendees with the opportunity to connect with others from a range of backgrounds, including industry representatives, patient group advocates, clinicians, researchers, medical students and others.

Not only was the International Showcase our biggest event yet, but it also marked an exciting change for our charity as we officially re-branded from Findacure to Beacon: for rare diseases. Our new identity truly reflects the work that we do and we were delighted to be able to share it with the international rare community.

A huge thank you to everyone who attended and supported the event. It was your input that made it such a success. If you weren’t able to attend our Showcase, read on for a full review of all three days and a chance to watch some of the exceptional talks delivered by our speakers!



Day one: February 1st 2022

Mainstage sessions

Session one

Rick Thompson, Beacon, Nick Sireau, Beacon, Sondra Butterworth, RareQoL, Kattya Mayre-Chilton, DEBRA International, Samantha Parker, IRDiRC

Our first session brought together a range of speakers united in their quest to amplify the patient voice and connect the rare disease community. This expert panel covered a variety of topics from Samantha Barker’s explanation of IRDiRC’s ambition to develop methodologies to accelerate the creation of approved rare disease medication to Kattya Mayre-Chilton’s description of how international collaborations between patients, healthcare professionals and researchers led to improved care for EB patients. Lara Bloom poignantly summarised the session by sharing the African proverb: “If you want to go fast, go alone. If you want to go far, go together.”


Session two

Flaminia Macchia, Rare Diseases International, Kelly du Plessis, RDSA, Anna Kole, EURORDIS, Bojana Mirosavljevic, Durhane Wong-Rieger, CORD

Session two went on to explore developments in policy and the role of patient advocates in creating change. We heard examples from around the world, including Bojana Mirosavljevic’s inspirational story of the introduction of Zoya’s Law in Serbia and Flaminia Macchia’s description of the Rare Diseases International campaign for the introduction of UN resolutions to tackle rare disease, demonstrating the power of grassroots advocacy to improve policy and ensure it is upheld.


Breakout sessions


Anna Kole led a breakout session focussing on the Rare 2030 foresight study.


Naomi Litchfield, Bionical Emas

Josie Godfrey and Lindsay Birrell, Realise Advocacy, Meryl Chambers, Soft Bones UK

This session was delivered as a panel, which gave attendees the opportunity to understand the patient group experience of navigating the challenging landscape of access and health technology assessment. It emphasised the difficulties of going through the HTA process, especially when there is often a lack of data on patients with rare diseases.


Mary Wang, RDI

Mary Wang led a session that looked at the essential list of medicinal products for rare diseases and the goals of the IRDiRD-RDI Global Access Working Group. She then opened up the session to discuss what the attendees thought would be considered as good access to medicine.

Lucy McKay, M4RD

Dr Lucy answered attendees burning questions on how they could better engage with HCPs and get them on board for improve collaboration. She put forward a basic framework for patient groups operating at different levels, giving top tips ranging from how to better structure your website to building medical advisory panels before opening up the floor for questions and peer to peer discussions.

Elin Haf Davies, Aparito

This interactive session involved industry representatives and patient advocates outlining their experiences in clinical trials and highlighted the important role the patient community has in the development of medicines. It explained that clinical trials designed using input directly from patients are more likely to be successful. In addition, it described the creation of a patient registry for Gaucher disease which was owned and governed by the patient community to inform clinicians and researchers what the real impact of the disease is on the patient and what patients’ needs are.

Tanya Collin-Histed, IGA

During this breakout session, Tanya spoke about their transition from a national to an international patient organisation and the steps they took to ensure they supported their members through this journey. Specifically, she spoke about the success they have had with their regional manager programme where they recruit individuals from specific regions to be the eyes and ears for IGA.


February 2nd 2022: Day two

Mainstage sessions

Mainstage session three

Christine Mutena, Rare Disorders Kenya, Samuel Waifa, Rare Diseases Ghana, Kelly du Plessis, Rare Diseases South Africa, Trudy Nyakambangwe, Shirene Badger, Illumina 

In this session, patient advocates discussed the greatest challenges on the continent and their aspirations going forward. Major topics identified by speakers included changing the mindset that rare disease is not an issue in Africa and overcoming the challenges of reaching remote communities. Speakers and attendees concluded that it is crucial to empower patients to advocate for themselves to fulfil the huge potential for progress in Africa.

Mainstage session four

Marie-Christine Ouillade, SMA Europe, Mikael Hjort, PerkinElmer, Edith Gross, EURORDIS, David-Zacharie Issom, European Sickle Cell Foundation, Pablo Botas, Foundation29

The session looked at collaborative approaches to increase and improve rare disease diagnoses. It took us through how patient advocacy and data ownership can drive patient empowerment. Particularly unique was Foundation 29’s Pablo Botas talking about developing a database of symptoms accessible to patients and clinicians to accelerate the diagnosis of rare conditions.

Mainstage session five

Andra Stratton and Heidi Bjornson, Chan Zuckerberg Initiative, Durhane Wong-Rieger, CORD, Renata Curi and Juan Llerena, Oswaldo Cruz Foundation, Emerson Cabral, Alexion, Ron Garber and Christina Butterworth, The Yaya Foundation

This session looked at the diversity of problems, progress and solutions across the Americas, with Heidi Bjornson and Andra Stratton from the Chan Zuckerberg Initiative covering the patient group landscape in the US, and Emerson Cabral, Alexion’s Patient Advocacy Lead for South America, exploring the research ecosystem of Brazil. It highlighted not only the impressive progress being made across the continent but also the promising range of objectives going forward.

Breakout sessions

Anton Ussi, EATRIS

Anton Ussi and Martin de Kort from EATRIS discussed the challenges and potential of drug repurposing during this breakout session, with an emphasis on the positive and negative experiences of patients and researchers through the process. During the session Toni Andreu, the scientific director at EATRIS, particularly emphasised that repurposing is the perfect example in the field of rare diseases of how we can identify and provide real solutions to unmet medical challenges in a way that benefits the patient community.


Mileva Repasky, CDCN

During this breakout session, Mileva discussed how Castleman Disease Collaborative Network (CDCN) created an innovative roadmap that accelerated Castleman disease research and treatment discovery by leveraging and integrating the entire community of stakeholders – patients, loved ones, physicians, and researchers.


Bojana Mirosavljevic

On day one of the International Showcase, we heard Bojana’s inspirational story of how she campaigned to get key rare disease policy introduced in her home country of Serbia. She returned on day two to expand on her journey and to provide attendees with advice on how to enact large scale change as an individual and how groups can better equip themselves to face the challenges this involves.

Femida Gwadry-Sridhar, Dan Lewi, Pulse Infoframe

This excellent, clear and instructive session was about ensuring patient advocates are involved throughout drug development and informed people on how to develop a rare disease registry. Breaking it down into the five comprehensible components of strategy, technology, engagement, sponsorship and belief made it accessible and helpful to those aspiring to create a registry.


Christine Mutena, Rare Disorders Kenya

This breakout looked at stigma and discrimination in the rare community, which was a core theme throughout the showcase. It discussed the socio-cultural factors that can prevent patients from seeking proper medical care and how this can lead to a higher risk of psychological issues among patients and caregivers. While it was led by representatives from Rare Disorders Kenya, the discussion quickly highlighted that these issues were shared across the globe.

Clare Thibodeaux, Barbara Goodman, CWR

During this breakout session, Clare and Barbara discussed the need to expand research capacity in low and lower-middle income countries. They expanded on the important work that Cures Within Reach (CWR) does to fund the early stage of drug-repurposing clinical trials in these regions.


February 3rd 2022: Day three

Mainstage sessions

Mainstage session six

Rajakanth R, Manifesta, Lisa Foster, Rare Disorders New Zealand, Durhane Wong-Reiger, CORD, Swapna Roopesh, Rare Diseases India. Sue White, Murdoch Children’s Research Institute

For our last region-specific session we looked east, to see how rare disease fits into the diverse landscape of the Asia-Pacific. Looking at different countries and regional organisations, participants discussed the drive from the patient community to deliver change. Swapna Roopesh from the Organization for Rare Diseases India highlighted the difficulties of campaigning for change in the rare disease field when the population and government are concerned with other severe, widespread public health issues. Following on from this, Lisa Foster, Chief Executive of Rare Disorders New Zealand, talked about the lack of specific rare disease policies in New Zealand. Although each speaker highlighted different issues, there was agreement that pushing for up-to-date, effective policy is vital and that translating policy into action relies on patient group centricity.

Mainstage session seven

Simone Manso, Healx, Marta Bertoli, Michael Wright and Dawn Clewes, MCDS Therapy, Bart Lagerwaard, UMC Utrecht, Suzie-Ann Bakker, World Duchenne Organisation, Stefano Zancan, Telethon 

This session discussed how we can initiate research, push for it to be accelerated and prioritised, and move it through the challenging translational space. We heard from a diverse range of speakers such as Tim Dreyer, a rare disease patient leading the research into treatments for his own condition, and Bart Lagerwaard and Suzie-Ann Bakker, researchers developing effective decentralised trial methodologies as part of the Trials@Home Consortium.

Mainstage session eight

David Rose, Rare Revolution, Dan Dry Dock Shockley, Retired U.S.Navy, Nora Leonardi, AGO2, Zainab Alani, Medical Student University of Glasgow, Vesna Aleksovska, International Gaucher Alliance, Concy Bwomono, European Sickle Cell Federation, Elizabeth Njeri, Patient Representative 

In many ways, this final session was the highlight of the showcase. We were fortunate to hear from those directly affected by rare diseases as patient advocates shared their experiences and opinions on problems and solutions in the rare disease space. From first-year medical student, Zainab Alani, to Chairman of the Association of Citizens for Rare Diseases “Life With Challenges”, Vesna Aleksovska, every panellist gave insights into what needs to be done to improve the experiences of rare disease patients. Despite being in different parts of the world and having different rare conditions, speakers identified common problems and a drive to make rare journeys easier.

Breakout sessions

Simone Manso, Healx

This breakout followed on from Simone’s mainstage presentation where he explained the importance of collaboration between pharmaceutical companies and patient groups. This session expanded on this topic using examples such as how the input from FRAXA research foundation greatly accelerated the development of treatments for Fragile X syndrome. This talk was critical in demonstrating to industry representatives the importance of having the patient voice at the core of treatment development.

Sondra Butterworth, RareQoL

During this breakout, Sondra Butterworth’s talked about RareQoL’s work in involving diverse communities in medical research and trying to bring together the best group of people to look into inclusive research.


David-Zacharie Issom, ESCF

During this session, David-Zacharie Issom from the European Sickle Cell Foundation (ESCF) spoke with attendees about the isolating experience of being diagnosed with a rare disease and its effect on mental health. It also touched on the impact of stigma and anxiety related to sporadic, traumatic and misunderstood symptoms of rare diseases.

Pitch ‘n’ Mix Sessions

During the International Showcase, we decided to shake up the way we network in the online world! Each day, we hosted a 55-minute session where attendees had the chance to meet and share thoughts and ideas with the other delegates. During these sessions, we also heard lightning talks from three different delegates per day. For those of you who don’t know, lightning talks are five-minute mini-presentations that are famous at Beacon events. Watch the video below if you want to see who managed to beat the bell!




With thanks to…


Thank you to all of our speakers, breakout hosts and lightning talk hosts for sharing their work and stories. A huge thank you to our International Showcase sponsors, without who this event would not have been possible: 2021 Corporate partner Healx, 2022 Gold Corporate Partner Pulse Infoframe, Gold sponsors Bionical Emas and Aparito, Silver sponsor EUSA Pharma, Bronze sponsors PTC Therapeutics, Rhythm Pharmaceuticals, Gilead, Roche, and The National Lottery Community Fund.

Our sponsors and supporters have provided financial support for this event. This event has been organised by Beacon and neither our sponsors nor supporters have determined the content or organisation. All funds received by pharmaceutical companies have been used in accordance with the ABPI code.