Meet the speakers
At The Cambridge Rare Disease Showcase, we believe in the power of diverse voices and innovative ideas. That’s why we highlight stories from a wide range of perspectives and backgrounds.
Throughout #RareShowcase25, you’ll have the opportunity to hear quick-fire presentations – known as lightning talks – delivered by patient groups, academia, industry and healthcare providers, who’ll share their ideas, progress and achievements in rare diseases.
But here’s the twist – all presentations are submitted directly by the audience!
During early registration, our attendees had the opportunity to submit a lightning talk proposal. Following review of all the proposals, our team have selected six lucky delegates to present on the night.
Programme
Throughout the evening, we’ll hear a series of 5-minute talks from our speakers. In between talks, there’ll be plenty of time for networking – giving attendees the chance to connect, chat, and share ideas.
18:40
Doors open
19:00
Welcome from the Beacon team
Mary Rose Roberts, COO
19:10
Waves of hope: exploring focused ultrasound for cavernoma treatment
Helen Evans, Cavernoma Alliance UK
19:35
What I have learned from being on “the other side”
Katy Shaw, University of Cambridge
Re-thinking rare: why rare diseases are more common than we think
Simon Lande, Health Lumen
20:10
‘Stronger Together’ is more than just a hashtag
Lindsay Randall, SLC6AI and Arthur’s Quest
Generating evidence for the HTA process: what would an ideal evidence toolkit look for patient advisory groups look like?
Eleanor Thurtle, Costello Medical
20:45
Research contribution is about more than just the cure
Elly Aylwin-Foster, Sano Genetics & Cystic Fibrosis Advocate
Closing notes
Mary Rose Roberts, COO, Beacon
Meet our speakers
Helen Evans
CEO, Cavernoma Alliance UK
Talk title: Waves of hope: exploring focused ultrasound for cavernoma treatment
Read Helen's bio
Helen Evans is the CEO of Cavernoma Alliance UK, a patient advocacy organisation supporting over 4,000 registered members living with cavernoma – a rare neurological condition.
Helen was formerly Director of Dravet Syndrome UK, another rare neurological condition charity.
Helen is a Learning Disability and Autism Leader’s List winner and also one of only a handful of openly autistic charity CEOs.
Simon Lande
CEO & Co-founder, Health Lumen
Talk title: Re-thinking rare: why rare diseases are more common than we think
Read Simon's bio
Simon Lande is the CEO and Co-founder of HealthLumen, responsible for setting the strategic direction of the company, and guiding the R&D process.
Before co-founding HealthLumen in 2019, Simon founded and scaled a technology business in the field of online compliance for multinational organisations, eventually exiting to a US private equity company.
Katy Shaw
Medical Student, University of Cambridge
Talk title: What I have learned from being on “the other side”
Read Katy's bio
Katy is a medical student at the University of Cambridge with an interest in genetics. She grew up around rare disease, with herself and her family members experiencing significant illness, and this has given her an insight into medicine from both sides of the hospital curtain.
When she is not at university, she is a daytime care support worker for disabled adults – many of whom also have rare diseases. This means she has found herself among a small group of medics who understand the experience of both rare patients, their families, and the non-medical professionals who support them.
Katy works extensively with the Rare Disease Society at the university, to bring medics together in understanding the unique dynamics of rare disease life, and more importantly, why they should care about rare! She hopes her lived experiences, and those of the people she’s lived with and cared for, can go on to inform professionals in all areas of what they can do to support rare patients.
Elly Aylwin-Foster
UK & EU Partnerships Manager, Sano Genetics & Cystic Fibrosis Advocate
Talk title: Research contribution is about more than just the cure
Read Elly's bio
Elly Aylwin-Foster is the UK & EU Partnerships Manager at Sano Genetics. Having worked in medical communications, research engagement, health tech development and healthcare journalism, she is now focused on supporting people living with rare disease to access clinical research studies.
Eleanor Thurtle
Rare Disease Principal Consultant, Costello Medical
Talk title: Generating evidence for the rare disease medicine HTA-process: what would an ideal evidence toolkit for patient advisory groups look like?
Read Eleanor's bio
Costello Medical is an independent consultancy that provides scientific support in the analysis, interpretation and communication of clinical and health economic data. As a Principal Consultant in the Rare Diseases Team, Eleanor works with a patient-focused, multidisciplinary team that leverages specialist expertise to overcome the unique challenges facing the rare disease community. Eleanor has extensive experience in HTA and real-world evidence generation and is passionate in supporting the market access of orphan and ultra-orphan products, due to the significant impact new treatments can have for the quality of life of rare disease patients.
Lindsay Randall
CEO and Founder, SLC6A1 and Arthur’s Quest
Talk title: Stronger Together is more than just a hashtag
Read Lindsay's bio
Lindsay Randall is Founder and CEO of SLC6A1 Connect UK-AQ, Co-Founder of the newly formed SLC6A1 Europe, research and support alliance, and a paediatric nurse in the UK.
In 2018 Lindsay received a call confirming her two year old son had epilepsy, as she had been telling HCPs for 18 months, what was not expected was the terrifying rare disease diagnosis he also received, SLC6A1. Discovered in 2015, there was not much information available, a handful of publications at most. No road map, no answers, no hope offered. SLC6A1 Connect UK-AQ was set up as a registered non-profit in 2019 with the aim of raising much needed awareness, funding for research and therapy development, and to be an informative connecting resource for families, and professionals. A UK based partner for the US non profit that was founded a year earlier. In 2020, Lindsay’s second child, who had been developing well for the first 10 months of life, started having seizures, and against all the odds, was diagnosed with SLC6A1 aged one. A devastating experience that became an additional motivator for pushing science forward. SLC6A1 now has a network of 11 registered patient organisations globally, and on August 29th, SLC6A1 Europe will host its first European Symposium (book via Eventbrite), bringing together researchers, scientists, clinicians and families to showcase current projects, and to encourage collaboration and partnership across the European network.