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 #RareShowcase24, 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
18:30
Doors open
18:50
Welcome from the Beacon team
Mary Rose Roberts, COO & Rick Thompson CEO
19:00
LifeArc Translational Centres for Rare Diseases
Sophie Allcock, Progamme Manager & Paula Kirby, Rare Diseases Portfolio Manager, LifeArc
19:30
Building a future with independence and freedom
James Oakley, KeepMeBreathing
Advancing rare disease research with ‘omics technologies
Kathy Stirrups, Samples Team Lead, NIHR BioResource
20:05
Developing a community-led Rare Disease Research Network
Laura Cowley, Research Lead, Patient Led Research Hub
8 years from discovery to treatment: successes and challenges in HNRNPH2
Stacy Paddon, International Outreach Coordinator, Yellow Brick Road Project
20:40
Rare Patient Passport – a trust compnion for any rare journey
Jo Balfour, Managing Director, Cambridge Rare Disease Network
AI development of rare disease therapies
Bruce Bloom, Chief Collaboration Officer, Healx
Closing notes
Mary Rose Roberts, COO, Beacon
Meet our speakers
Jo Balfour
Cambridge Rare Disease Network
Talk title: Rare Patient Passport – a trusty companion for any rare journey
Read Jo's bio
Jo, Managing Director and Co-founder of Cambridge Rare Disease
Network (CamRARE) oversees the strategic, creative, and operational
development of the charities initiatives. She’s the driving force behind the
organisation’s innovative events program, designed to raise awareness
about rare diseases and encourage cross-sector collaboration.
Additionally, Jo founded the charity’s regional rare disease community,
Unique Feet, bringing families together in an inclusive and supportive
environment. She manages CamRARE’s Companies Forum, a networking
and knowledge-sharing platform for pharma, biotech, and life science
companies, and oversees all other aspects of the charity’s research and
project work.
Previously Jo spent 25 years in management and advisory roles in
education. She has devoted her life to providing support and challenge to
ensure exceptional care for people living in extraordinary circumstances,
enabling them to achieve their goals in all aspects of life. Jo’s unwavering
commitment is evident in her work at CamRARE, with a mission to provide
exceptional care, treatment, and support to all those affected by rare
diseases.
Kathy Stirrups
NIHR BioResource
Talk title: Advancing Rare Disease research with omics technologies
Read Kathy's bio
Dr Kathy Stirrups leads the NIHR BioResource Samples team, which is
responsible for the bio-banking of samples from new participants across
all the BioResource themes (Rare and Common diseases and General
population) for future research studies. This includes extraction and
quality control of DNA before generation of genetic data. She also
manages bespoke projects such as whole genome (WGS) or RNA
sequencing to assess the translation of these techniques into health
systems.
Kathy has held a number of academic and small biotech roles specialising
in assays and bio-banking of DNA, RNA, proteins and biological samples.
Her PhD is in Molecular Virology from the University of Reading.
Stacy Paddon
Yellow Brick Road project
Talk title: 8 years from discovery to treatment: successes and challenges in HNRNPH2
Read Stacy's bio
Stacy Paddon is determined to help her daughter Cady and all those affected by HNRNPH2 mutations to live the best lives they can. Originally from Canada, Stacy moved to the UK with her husband in 2010. Their daughter was born in 2012 and they now live in Northamptonshire. An author by day, Stacy serves as International Outreach Coordinator and Board Member of the Yellow Brick Road Project, the US-based patient advocacy group for HNRNPH2-Related Neurodevelopmental Disorder.
James Oakley
Keep Me Breathing
Talk title: Building a future with independence and freedom
Read James' bio
James Oakley is the CEO of KeepMeBreathing. An entrepreneur turned Rare Disease leader, he shares a common bond with the rare disease community as a devoted parent. Inspired by the challenges faced by his son, Casper, who battles with CCHS disease, James decided to channel his energy and expertise into making a tangible difference. In response to the critical need for enhanced technology for CCHS patients, James founded a non-profit med tech charity, KeepMeBreathing (KMB). KMB is now backed by over 130 Scientists, Doctors, Rare Disease Professionals, Clinicians and Engineers from 8 countries around the world.
Through the dual role as a dedicated parent and entrepreneur James works tirelessly to make KMB a showcase of the power of personal experiences in driving positive change within the rare disease world and highlights the potential for collaboration between the business world and healthcare to bring about meaningful advancements for those living with rare respiratory conditions.
Laura Cowley
Patient Led Research Hub
Talk title: Developing a community-led Rare Disease Research Network
Read Laura's bio
Laura joined the Patient Led Research Hub (PLRH) as Research Lead in 2016. A collaboration between the University of Cambridge and NIHR Cambridge Biomedical Research Centre, the PLRH aims to turn research on its head by co-producing patient-initiated research ideas. In 2023, the PLRH and CamRARE, along with over 20 members of the rare disease community, joined forces to develop a new multi-stakeholder, community-led rare disease research network.
Bruce Bloom
Healx
Talk title: AI Development of rare disease therapies
Read Bruce's bio
Dr. Bruce Bloom is Chief Collaboration Officer of Healx, a Cambridge UK biotech using AI and drug development to create novel therapies for rare disease patients. He is also CEO of the public benefit drug repurposing corporation Fortuity Pharma, Chief Science Officer of the Kabuki Syndrome Foundation and the founder and former CEO of the charity Cures Within Reach. All of these positions are focused on developing therapies for rare diseases. Dr. Bloom is an Ashoka Social Entrepreneur Fellow and sits on a variety of government, media, non-profit and for-profit Boards.
Sophie Allcock
LifeArc
Talk title: LifeArc Translational Centres for Rare Diseases
Read Sophie's bio
I recently joined LifeArc as the Programme Manager for the LifeArc Translational Centres for Rare Disease. I will be working closely with the LifeArc Centres and the Hub to facilitate delivery and impact for patients. I have a background in global population health and spent the last five years leading research operations for large-scale health and genetic studies in the UK and South Africa.
Paula Kirby
LifeArc
Talk title: LifeArc Translational Centres for Rare Diseases
Read Paula's bio
I joined LifeArc in November 2022 and am now the Rare Disease Portfolio Manager. My role involves working closely with the whole LifeArc RD team and external collaborators to deliver our goals – no two days are the same! Before joining LifeArc I worked in research management, project management and clinical trial management in Pharma (drug development & vaccines) & academia, across a wide range of disease areas.