Our vision is a world in which all rare diseases have treatments – made together with patients, for patients
Findacure is a UK charity that is building the rare disease community to drive research and develop treatments. We are here to transform the world’s understanding of rare diseases and the devastating impact they have on people’s lives.
How are we achieving our vision?
- We transform the lives of people affected by rare diseases by working directly with patient support groups, giving them the skills to professionalise their work and the confidence to recognise their own expertise in their rare conditions.
- We accelerate change in rare disease research and care by building a strong, supportive, and collaborative rare disease community that works for the benefit of all rare conditions.
What do we do?
Findacure’s projects are in high demand, helping patient groups to:
Build their charity
Raise awareness of their rare condition
Provide support to patients and families
Get research ready
Charity number: 1149646
Company number: 08174973
Findacure was founded in 2012 in Cambridge, UK. After hiring our first full-time employee in late 2013, we are now a vibrant team of four, running a diverse range of projects to meet the needs of our beneficiaries.
The need for our organisation was realised out of the separate experiences of our co-founders, Nick Sireau and Tony Hall:
Nick’s two sons were born with the rare disease alkaptonuria, an ultra-rare genetic condition that causes bones to turn black and their surface to corrode. At the time of his sons’ diagnoses, there was no treatment available. Nick quit his job to grow the AKU Society, a charity that now supports patients around the globe and is awaiting the results of a major clinical trial this coming September.
Later in his journey, Nick began to be contacted by other patients and parents wanting to repeat his achievements in their own rare conditions. He realised there was huge demand for a new organisation to share advice and knowledge between patient groups, saving each the time, resources, and stress of having to reinvent the wheel.
As an expert in orphan drug development, Tony had seen first-hand the financial and logistical challenges that pharmaceutical companies face when developing treatments for small patient populations. He realised the need for a non-profit approach to improve patient health while not breaking the NHS bank.
At the time when he met Nick, Tony was interested in establishing an organisation to work on sustainable models for not-for-profit drug development for rare diseases. The two teamed up to establish Findacure and work on his ideas.
Nick was delighted to share his story at a TEDxImperialCollege in 2012. Watch his talk here:
Dr Rick Thompson
Dr Rick Thompson joined Findacure in 2015, after completing his PhD in Evolutionary Biology at the University of Cambridge. He began working as Findacure’s first Scientific Officer, helping to develop the charity’s proof of concept study for the innovative drug repurposing social impact bond. Having been promoted to CEO in May 2017, Rick now oversees the charity’s strategy and development, oversees major funding applications, and manages the team, while still maintaining Findacure’s scientific projects. Rick is always keen to speak about Findacure’s work, and aims to encourage industry engagement with rare disease patient groups, promoting an open and collaborative approach to rare disease research and patient support.
Mary Rose Roberts
Head of Operations
Mary Rose is responsible for the development and strategic oversight of Findacure’s Empowerment Programme; working together with the Projects Officer to ensure delivery of our workshops, webinars, e-learning portal and peer mentoring programme.
In addition, she produces the annual Drug Repurposing for Rare Diseases Conference, and the Rare Disease Showcase Series, leading on event logistics, agenda setting, and securing corporate support. Mary Rose also oversees our community fundraising activities, heads up the Patient Engagement Committee, and acts as the charity’s Data Protection Officer.
Mary Rose has a 1st class hons. degree in Politics from Keele University and originally joined Findacure in 2016 as the charity’s first Events Manager.
Laura is responsible for funding Findacure’s patient group training projects and associated core costs. She forms and maintains relationships with our supporters and coordinates the monitoring, evaluation and reporting on projects.
Her goal is to continuously develop our fundraising strategy, focussing on sourcing income through grants, trusts and a variety of other sources.
Laura joined the team in 2019 and has worked in the not-for-profit sector for the last ten years managing fundraising, projects and volunteers in various settings. She has a 1st Class Hons. Degree in Women’s Health from Edge Hill University.
As Projects Coordinator Philippa is responsible for the management of the annual international essay competition, The Student Voice Prize, alongside managing RareChat, and the delivery and management of major elements of Findacure’s Patient Group Empowerment Programme. This includes leading the delivery of Findacure’s webinar programme, responsibility for a cohort of patient group mentees, supporting the Head of Operations in delivering our flagship workshop programme, and the launch of our new online Resource Hub. Philippa also works alongside the team in the development of creative and strategic plans for future projects, to support Findacure’s aims. Philippa has a first class hons. degree in History from Newcastle University and joined Findacure in 2019.
Marketing & Engagement Manager
Blayne is responsible for managing Findacure’s marketing communications strategy. She produces the charity’s print materials and develops patient stories to be shared across social media and the Findacure website.
Blayne coordinates our promotional campaigns, manages our social media accounts and maintains our website. She also writes our newsletters and press releases, and oversees all press contacts and MCDS-Therapy communications.
Blayne received a Bachelor of Science degree in Communications with a minor in Business from Clarkson University and joined Findacure in 2020.
As Projects Administrator, Hannah supports the delivery and administration of Findacure’s programme of events and projects, with a particular focus on the annual Drug Repurposing Conference and the Rare Disease Showcase Series. She is also involved with the Patient Group Empowerment Programme and oversees a cohort of patient group mentees. Another of her key responsibilities is creating guides and courses for our new Resource Hub.
Hannah has a degree in History from the University of Leeds and joined Findacure in 2021.
Dr. Nicolas Sireau
Co-founder and Chairman
Dr Nicolas Sireau is the Interim CEO and Chair of Trustees at the AKU Society, a patient group that helps people with AKU (short for alkaptonuria), a rare genetic disease affecting both his children. Previously, Nick was Patient Engagement Director in Oncology at AstraZeneca and beforehand, was the CEO of SolarAid. He is a fellow of the Ashoka Fellowship of Social Entrepreneurs and has a PhD in the social psychology of social movements. He is the editor of ‘Rare Diseases: Challenges and Opportunities for Social Entrepreneurs’ (Greenleaf 2013).
Dr. Anthony Hall
Co-founder and Vice-chair
Dr Anthony Hall graduated from King’s College London with first class honours in physiology and pharmacology before going on to study medicine at the Royal Free Hospital. He joined the pharmaceutical industry in 1994 and has significant experience in the clinical and regulatory development of drugs for rare diseases. He speaks regularly at rare diseases conferences, is author of a number of articles on orphan drugs and is a member of the IRDiRC Working Group on Orphan drug-development and regulatory processes.
Jo is a partner at PwC where she leads the UK Pharmaceuticals and Lifesciences business. She advises companies, investors and ministries of health on strategies to grow the Lifesciences industry. She is passionate about public health issues such as dementia, antimicrobial resistance and rare diseases.
She is also a trustee for the UK Dementia Research Institute and advisory board member for MedCity and University of Strathclyde’s CMAC.
She lives in London with her husband and teenage daughter and is passionate about film, cycling and travel
Andy Milligan is a leading international brand and business consultant and a founding partner of The Caffeine Partnership, which provides ideas, energy and advice to senior managers on business growth and brands. His experience spans industries as diverse as airlines, ﬁnancial services, fast-moving consumer goods, telecommunications, sports and leisure and pharmaceuticals. Andy has published five bestselling business books.
Edna Kissmann is one of the owners and senior partners in Kissmann Langford, a strategic communications consultancy. Previously, she served as Assistant Press Secretary to the late Prime Minister Rabin of Israel and as Global Chair of Healthcare Practice and Chief Knowledge Officer at Burson-Marsteller, a major communications company. She has been a trustee of the Ashoka Fellowship of Social Entrepreneurs and is now a member of the Ashoka Support Network.
Sophie is the founder and CEO of Costello Medical, a consultancy supporting the healthcare sector in the analysis, interpretation and communication of clinical and health economic data. The company has grown from a team of 2 in 2008 to over 160 staff in 6 offices across 4 countries. In addition to their work for pharmaceutical and public health clients the teams at Costello Medical also work on a pro bono basis for a wide variety of charities.
Sophie lives in Cambridge with her husband and outside work is kept busy caring for her four young children.
Our Scientific Advisory Committee
Dr. Bruce Bloom
Dr. Bruce Bloom is Founder of Cures Within Reach, a non-profit saving lives by repurposing human approved drugs and devices to quickly deliver safe and affordable treatments and cures for diseases that have no currently effective therapy.
Dr. Bloom became an Ashoka Social Entrepreneur Fellow for his system-changing solutions to finding new treatments for unsolved diseases. He is the Patient Advisory Board Chair for the Institute for Translational Medicine, the Director of Scientific Affairs for Vision for Tomorrow, on the Science Advisory Boards of Rediscovery Life Sciences, the GARROD AKU Consortium, the Dr. Ralph and Marian Falk Medical Research Trust Awards Programs, and Healx, the Chair of the Governance Committee of the Kendall College Charitable Trust, and a member of the Board of Councilors of Midwestern University, and a member of the editorial board of ASSAY and Drug Development Technologies.
Dr. David Cavalla
David Cavalla has 30 years experience in various senior scientific and commercial roles within the pharmaceutical industry, and 15 years in drug repurposing; previously he was founder and CEO of Arachnova Ltd, and prior to that, at Glaxo Group Research Ltd and Napp Research Centre. He is also founder and principal of Numedicus Limited.
He is author of Off-Label Prescribing: Justifying Unapproved Medicine, and one of the first advocates of drug repurposing, using this strategy to create three first-in-class developmental products to have successfully passed human proof of concept clinical stages. He obtained a first degree and PhD at Cambridge University and spent two years as a visiting Fellow at the NIMH, Washington, DC. He is author/inventor of over 70 published papers and patents.
Dr. Mark Edwards
Mark is a medically-qualified doctor (a former NHS anaesthetist) with c.25 years’ pharmaceutical R&D experience. He was a Global Clinical R&D Director and then Director of Science and Medical Public Affairs at Pfizer. He has worked at all phases of clinical development across a wide variety of therapeutic areas. This included leading Pfizer’s global clinical development team to achieve US/EU regulatory approval of sildenafil as a first-in-class treatment for pulmonary arterial hypertension.
He has also established major R&D projects at the interfaces between academia, the NHS and the biopharmaceutical industry e.g. MRC/industry stratified medicine consortia in COPD and RA, and the NIHR’s Translational Research Partnership Programme.
Now he mainly provides strategic and applied clinical, scientific and policy advice to small and medium-sized biopharmaceutical companies. Mark works with a diverse range of other life sciences organisations at Board/Committee level, or as a business mentor. These include the ME Trust and Dyskeratosis Congenita Action.
Dr. Kathryn Johnson
Kathryn is a neonatal paediatrician working at the Leeds Teaching Hospitals NHS Trust where she holds positions as a Consultant Neonatologist and Research Lead for Leeds Neonatal Service. The Neonatal Service in Leeds is one of the busiest in the country with 55 beds including 15 intensive care cots. The service provides care to infants with surgical, cardiac, neurosurgical, renal and hepatic conditions including many with rare congenital abnormalities or diseases.
Kathryn has a long standing interest in neonatal/paediatric rare disease and is committed to supporting research into such conditions with the ultimate aim of improving the lives of babies, children and families. She has a strong research delivery record within the neonatal service and as an executive committee member for the British Paediatric Surveillance Unit has a unique experience and insight into surveillance for paediatric rare disease. Kathryn’s is also Scientific Advisor for the charity Action for Ataxia Telangectasia, where her role is to monitor the progress and outcomes of the research projects the charity funds.
Margaret Ogden lives with Wegener’s Granulomotosis, a rare auto-immune disease. She has been a volunteer in patient and public involvement activities over the past decade. She is a Patient Safety Champion and has worked with medical students at Teesside University. Her main areas of interest centre around research and she attended the International Research Summer School in 2011. Her specialisms include diagnostics, developing guidance and quality standards, the community pharmacy and medication reviews, oral health, respiratory disease, equality and diversity and patient empowerment.
She has found living with a chronic physical illness difficult and challenging. While tolerating the treatment well, the side effects have been overwhelming. She hopes that this is an area where she can give a substantial contribution to the work of the Committee. Repurposing of drugs will be a new field and she is looking forward to meeting the challenges of this important area of work.
Dr. Edmund Jessop
Edmund Jessop has been practising public health for the NHS in England since 1981 in various jobs at district, regional and national levels. Since 2002, he has been medical adviser to the team which plans, funds and monitors services for patients with very rare disease. This has included decision making, and more recently close liaison with NICE, on the so-called “ultra-orphan” drugs as well as other highly specialised technologies. Edmund is UK representative to the EU Expert Group on Rare Disease.
He was Vice President of the UK Faculty of Public Health (FPH) from 2011 to 2014 and Editor of the Journal of Public Health 1998 – 2007. He has taught courses on public health including health economics and health technology assessment for over 15 years.
Dr. Kamlesh Sheth
Dr Kamlesh Sheth is a UK-based licensed pharmaceutical physician with over 25 years experience in the healthcare and life-science industry. He is director of PharmacoMedics, Aegleio and Glockal. Kamlesh has significant experience of working with patient groups including mentoring. He also has drug development, clinical research and regulatory experience of over ten years in rare diseases. Kamlesh has a keen interest in and experience of drug re-purposing in the pharmaceutical industry. He is a Fellow of the Faculty of Pharmaceutical Medicine (FPM) with additional responsibility as a chairman of the Commercial, Industrial and Medical Affairs Special Interest Network of the FPM and also a member of its Rare Disease Network. Kamlesh is an operational committee member of British Association of Pharmaceutical Physicians (BrAPP), medical appraiser for pharmaceutical physicians and is on the Board of Examiners of FPM.
Our Patient Group Engagement Committee
Chris Bedford Gay
Chris is currently Chief Technology Officer and Director of a small software development company specialising in online skills testing and personality profiles for recruitment and team management.
Alongside his day job he also founded FOP Friends in 2012, a charity supporting families and research into his son Oliver’s condition Fibrodysplasia Ossificans Progressiva (FOP) – a condition only 1 in every 1,000,000 suffer from. Chris does this entirely voluntarily.
He is also a board member of the International FOP Association, based in the USA and chairs the International President Council for FOP, a committee that brings together all the national FOP organisations from around the world to work together towards a treatment and ultimately a cure for FOP.
Chris is also a long standing member of Manchester Round Table, a social charitable organisation, which raises money for local good causes through annual events such as firework displays, beer festivals and Santa sleighs, to name only a few.
Finally, he is dad to three boys who, at time of writing (August 2021), are Harry (8), Leo (11), and Oliver who has FOP (13).
Christine Mutena is an immensely passionate advocate for rare diseases and special needs in Kenya and globally. These causes are deeply personal to her being a mother of two children, both of whom have non-related rare genetic conditions.
Christine is the founder of Step by Stones association, an organization that leverages social media platforms to offer support to its community of special needs parents, caregivers and psycho-social support specialists.
Christine is also the co-founder of Rare Disorders Kenya, a patient-led organisation that seeks to amplify the unmet needs of the rare diseases community to policy makers. They mark Rare Disease Day annually by hosting a well-publicised event that is centred on patients narrating first-hand their rare disease journey.
Christine also dedicates her time to helping drive forward research efforts of rare diseases. She serves as the International Ambassador (Africa) for the Chromosome 18 Registry and Research Society as well as undertaking a project with Cambridge Africa Alborada Fund under the International Sustainable Partnership in Inclusive Research & Education (INSPIRE) initiative.
Craig is currently the Chief Operating Officer of Unique – the charity providing support and information to those affected by rare chromosome and gene disorders and their families. Craig oversees Unique’s fundraising, administration and infrastructure; supporting and enabling the frontline team to deliver services to families and professionals.
His background is in HR, operations management and communications. Prior to joining Unique, Craig was a member of the charity as his eldest daughter has a rare chromosome disorder.
Since 2019, Francesca has been an information and family support officer for Unique, a charity with over 22,000 families registered worldwide with a rare chromosome or single gene disorder. Her role is to answer queries and provide reliable, well-sourced information for these families and the range of professionals involved in these individuals’ care. Additionally, with permission, Francesca helps match and put families in touch with one another on the basis of their rare chromosome disorder, symptoms or treatments. This is a particularly satisfying part of her role and often helps alleviate the isolation many experience after a rare disease diagnosis.
Laurence Woollard is founder and director of On The Pulse – an independent, strategic consultancy providing specialist insight to UK and global healthcare providers on the development and rollout of patient activation campaigns in haemophilia and rare diseases.
Laurence has extensive patient advocacy experience, having advised on and implemented a broad scope of community awareness, research and educational initiatives for commercial partners and third-sector organisations. He has published thought leadership articles across various platforms and has authored several manuscripts in international, peer-reviewed journals. Laurence’s particular focus and expertise with On The Pulse is youth engagement and empowerment to both accelerate and make more effective the transition process and support life-affirming self-management.
Laurence is highly driven by his own journey and challenges of living with severe haemophilia – a rare bleeding disorder – and the impact on the family dynamic, to campaign for and effect real change in improvements to quality of life for his peers.
Mandy was born with an extremely rare overgrowth condition in her lower limbs. At two she was misdiagnosed with lymphodema & at seven amputation was suggested. Despite physical limitations, Mandy had a happy childhood and in her twenties gained a degree in psychology. She later qualified as a counsellor where she volunteered within the NHS, and a homeless charity.
During her thirties her mobility began to deteriorate. She suffered a spinal stroke, paralysis, MRSA, a number of severe infections lasting many years, leading eight years later to an amputation of her left leg. Mandy decided she needed to find out more about my rare condition. Her initial search led to Proteus syndrome but was quickly ruled out. In 2012 after appearing on a number of tv documentaries, she met Professor Semple & Dr Parker at Addenbrookes in Cambridge. Through DNA sequencing she was the first to be found with her particular mutation in the PIK3CA gene.
The condition is now known as PROS (PIK3CA Related Overgrowth Spectrum), an umbrella term for a number of conditions that sit within PROS.
Soon after, they discovered that Sirolimus (an anti-rejection drug used for kidney transplant patients) could possibly stop her overgrowth & even shrink her affected areas. She had great success losing five stone in weight from her legs & foot. In 2019 Sirolimus stopped working & her overgrowth still continues to grow.
During this time she set up a registered charity called GoPI3Ks (Genetic Overgrowth PI3K Support) to help those living with PROS. They provide financial grants to help with the extra costs associated with living with PROS, provide research information, contact with doctors, help create a social network for families/patients to connect with others, as well as running family weekends. Being rare, life is constantly changing & Mandy is hoping to try the medication Alpelisib; as well as being used to treat breast cancer, there has also been great success treating those living with PROS.
Michelle Conway is a freelance consultant and the founder of CRD Consulting Ltd. Her work spans across Industry and the third sector to support improved care and access to effective treatments for rare conditions. Originally trained as a nurse, Michelle has pursued a successful career spanning two decades in the pharmaceutical industry, spending a significant proportion of this time developing strategies to create improved market access for ultra-orphan medicines.
Recently graduating with a Master’s in Public Policy, Michelle combines her knowledge and experience with a passion to remove barriers to effective care and treatment for those living with a rare condition by influencing policy to change the landscape. Using her excellent networking skills to engage key stakeholders from across industry, government and the third sector on priorities important to the rare disease community.
Approaching her work with experience spanning many dimensions, Michelle is driven by a desire to improve the lives of those who face a daily struggle by helping remove barriers to effective care and treatment wherever she can.
Mileva Repasky is the Chief Patient and Development Officer at the Castleman Disease Collaborative Network and (most importantly) mother to one of the youngest Castleman Disease patients, Katie. She is passionate about connecting patients and loved ones, fundraising, patient advocacy, and raising awareness.
She continues to advance the CDCN’s mission by collaborating with the patient and loved one community, physicians, researchers, and our partners, to advance our life saving mission.
She is particularly interested in finding new and innovative ways to raise awareness of this disease and other rare disease. Mileva graduated with a BS in Psychology and completed her Masters in Clinical Psychology in 2018.
Silvia Cerolini is the mother of 7 year-old Vicky. Vicky is affected by Leber Congenital Amaurosis (LCA), a rare inherited disease causing progressive sight loss in children.
Since the diagnosis ~ 4 years ago, Silvia has been actively advocating and fundraising to support research into inherited retinal dystrophies. Her campaign, Through Vicky’s Eyes, has raised ~1 Million $ to advance research on LCA. It led to the publication of 4 scientific papers and the advancement of multiple therapeutics approaches from drug repurposing to gene therapy.
Passionate about connecting people, she now coordinates a group of over 100 families with Vicky’s condition from all over the world. She has been the driving force behind the first ever Global Patient Day in 2018 and the first ever Global Scientific Workshop on Vicky’s condition in 2019. The workshop is considered a best in class example of patient involvement in research and now reapplied by other patient organizations. Her efforts have been featured on TV and Press all over Europe.
Originally Italian, Silvia lives with her family in London where she works as Global Director of Analytics & Insights at Procter & Gamble.
Sue is the chair of Pitt Hopkins UK, a charity she helped found in 2016 after her middle son was diagnosed in 2007 with Pitt-Hopkins syndrome (PTHS) as part of a European research project. She is also a moderator of the international and UK Google groups, a co-moderator of an international Facebook group and of the PTHS RareConnect group. She has been the International Representative for the Dutch Pitt-Hopkins syndroom charity since 2009, when it was founded, and is also a patient advocate and on the patient council for the ERN ITHACA.
Tony Thornburn OBE
Tony served 35-years in the Armed Forces, during which time he benefited from a wide variety of appointments and roles, before becoming a Lecturer in Systems Engineering at Cranfield University, where he remains a Visiting Fellow. He is currently involved with the STEM initiative in schools, the British Standards Institute, a Systems Thinking Special Interest Group and a Human Factors Integration Working Group. A Fellow of both the Chartered Management Institute and the Institute of Leadership and Management, he is an associate member of the RSM, RCGP and BSR.
Tony became a member of Behçet’s UK in 2006 when his daughter, by chance, was eventually diagnosed with the condition. He feels immensely privileged to have been appointed Chair in 2017 and sought to build upon all the hard work that went before. This is being achieved armed with knowledge provided particularly by Findacure and Genetic Alliance UK to set the foundations firm for its future; establishing a Patient Registry, Natural History Study, getting into the genome space, together with research and drug development or repurposing. He is passionate about improving the
lot of rare disease patients, their families, carers and supporters and all that should be in place to support them during their difficult journey; principally by trying to encourage everyone to be more truly collegiate – ‘a real systems challenge’.