Cambridge Rare Disease Network
Cambridge Rare Disease Network is a charity building a regional community to address the unmet needs of those living with rare conditions, their families and the professionals who work with them. We strive to give those living with
rare disease a united regional voice to help develop user-led services.
Medical research and drug development have transformed the lives of people living with diseases that were formerly untreatable. Our challenge is to create a climate that fosters innovations in health, education, and social care by providing widespread community events and activities and stimulating interest and awareness in the unmet therapeutic needs of those still without treatments and cures.
Building and engaging a rare disease community
Sharing Cambridge expertise with the world
Empowering stakeholders and those living with
- We host a range of educational and networking events including RAREfest: a public-facing celebratory event and interactive exhibition, talks and film festival; the Cambridge Rare Disease Summit, an acclaimed summit with international and UK- based thought leaders alongside powerful patient voices; a Rare Disease Day lecture and networking event; short evening and half day events throughout the year
- We hold quarterly Companies Forum meetings which offer a neutral, collaborative platform for pharmaceutical, biotech
andhealth-related companies to discuss common issues in rare disease drug development and to drive change. We provide the secretariat for this and access to patients and patients organisationsto ensure their voice is a central part of discussions
- We develop research projects where there are identified gaps in service provision for those living with rare disease. We are incubating the Rare Disease Nurse Network (RDNN) project
- We host a Cambridgeshire children’s and families activity group called Unique Feet. Children, with different rare conditions, and their families, meet weekly to have fun together and support each other
- We are building a philanthropic community for rare diseases in Cambridge through charity fundraising events, and event sponsorship opportunities
We will build a regional, user-led, rare disease community in Cambridgeshire by bringing together all stakeholder groups in a spirit of collaboration and a willingness to share and learn: people and families living with
We aim to better understand gaps in service provision, support and knowledge for those living with rare conditions and the professionals who work with them. We will establish supportive forums and work with researchers to help identify these gaps. We will undertake long-term projects to develop services to address some of these needs.
Education is a key aim of CRDN as there is so much unknown about rare diseases. We aim to offer high quality, engaging, thought-provoking educational events throughout the year. We aim to present excellent UK-based and international speakers and showcase the potential the Cambridge Cluster, the University of Cambridge and the vibrant biotech business community, alongside powerful patient voices and advocacy groups. We aim to adopt new technologies to help bring this information to the global rare disease community and the general public.
Why a regional rare disease charity?
One in 17 people will develop a rare disease at some point in their lives – that’s 3.5 million in the UK alone.
Most of these diseases manifest in early childhood and many are life-limiting conditions.
With recent advances in medicine and genetics, we’re more able than ever before to diagnose and treat rare diseases. We can even see cures on the horizon. Patients are now living longer so it is important that health, education and social systems plan effectively to keep pace with these advances to ensure the best care.
It’s vital that we now work together to see these advances make the leap from the lab bench to the bedside and enhance
Chief Executive OfficerKay Parkinson was the mother of two children who were diagnosed with the ultra rare disease Alström Syndrome when they were aged 18 & 15, having had four previous mis-diagnosis. Both children died following heart and heart/kidney transplantations aged 25 and 29 respectively. She qualified as a lawyer in 1996 as a mature student, specialising in charity law.
Events and Communications ExecutiveJo is a founding member of CRDN and is a steering group member. She manages the CRDN RAREfest event, our conferences, networking and educational events and is founder of the Unique Feet activity and community support group for children and their families living with rare conditions. She also supports the organisation of CRDN’s fundraising events.
Dr Tim Guilliams and Dr Jelena Aleksic
Founding DirectorsCRDN was co-founded by Tim and Jelena who met during their PhD studies at the University of Cambridge. Both have since set up companies making an impact in rare disease diagnosis and treatment: Jelena founded and was CEO of GeneAdviser, making it easier for doctors to order clinical genetic tests, and Tim is founder and CEO of Healx, repurposing approved drugs to create new therapies for patients with rare diseases.
OUR Board of Trustee
Prof Alan Barrell
Chair and TreasurerAlan has spent his working life in or close to healthcare – both as technical practitioner in the NHS for six years in Clinical Laboratory Medicine, and more than twenty years in the Healthcare Industry – seventeen in senior executive positions with Baxter Healthcare International. From his Cambridge base, he is active worldwide working in education, business support and start-up – mostly related to health and life sciences.
He has raised venture capital funds for investment in early stage healthcare companies and served on the boards of a number – still doing so today with Eagle Genomics Ltd, Epigene Prognostics, Lifebit Bioinformatics, MedTech International, and advises Nuclera, a Cambridge start-up working on the development of long form DNA.
As Treasurer and Trustee of the Royal Society of Arts Alan gained experience in charity direction and management. He was for eight years a Trustee of the Papworth Disability Trust and is a Trustee of the newly formed charity OCD Research Initiative (working on Obsessive Compulsive Disorder). In the latter part of his career, back in the NHS, Alan was the first Chairman of Health Enterprise East and Chairman of the East of England NHS Innovation Council.
Alan was awarded the Queens Award for Enterprise Promotion in 2005 and appointed Knight First Class of the Order of the White Rose of Finland in 2010 for services to education. He is an Honorary Fellow of Anglia Ruskin and Essex Universities. He works extensively in China and Finland – as well as UK – in promoting the development of life science companies and cross border investments and has a special interest in the rare diseases area.
Dr Tim Guilliams
Founder and TrusteeTim is a social entrepreneur passionate about delivering the next generation of therapeutics to rare disease patients in need. He is the Founder and Chief Executive of Healx and the Co-Founder and Chair of the Cambridge Rare Disease Network (CRDN), a charity aiming to foster dialogue and awareness around rare diseases in Cambridge, UK.
Prior to Healx and CRDN, Tim worked on University-Industry interactions in the area of Life Sciences for the UK Government Department for Business, Innovation and Skills (BIS). He obtained his PhD in the field of Biophysical Neuroscience at the University of Cambridge. He is also a Junior Associate Fellow of the Centre for Science and Policy (CSaP). Before moving to Cambridge, he obtained an MEng in Bio-Engineering from the University of Brussels (VUB).
TrusteeSarah was born and raised in Germany before moving to the UK to pursue a long-held ambition to study medicine. During her undergraduate training at the University of Cambridge she undertook a number of research projects and decided to do a PhD to further her passion for understanding the basic science underlying medical practice. She did her research under the guidance of Dr Robert Semple investigating rare syndromes of low blood sugar in infants.
Prof Tim Cox
TrusteeTimothy M. Cox FMedSci, Professor of Medicine Emeritus and Director of Research, was elected to the Chair of Medicine in the University of Cambridge in 1988, and is a Life Fellow of Sidney Sussex College. Currently directing a laboratory research in the University Department of Medicine and Honorary Consultant Physician at Addenbrooke’s NHS Trust Hospitals, he was the Founding Director of the MB/PhD programme in Cambridge (1989-2014) – the first the UK.
After Oundle School, and technical work in Cambridge, he was Entrance Scholar in Science at The London Hospital Medical College and later awarded the Anderson Prize in Clinical Medicine and Pathology. In London’s East End, he took up a two-year Junior Lectureship in Pathology with Professor Israel Doniach in the Bernard Baron Institute before returning to clinical training posts at the Royal Postgraduate Medical School, Hammersmith, London, and the Oxford United Hospitals. Subsequently awarded a Medical Research Council Training Fellowship, Wellcome Trust Senior Fellowship in Clinical Science and Wellcome Trust Senior Lecturer Cox was appointed Senior Lecturer in Haematology and Medicine at the University of London at Hammersmith (now Imperial College of Medicine). He was a Visiting Scientist in the Department of Biology, Massachusetts Institute of Technology, USA; and in 1986, he spent six months in the Sir William Dunn School of Pathology, Oxford.
Tim’s research interests are in the biochemical genetics of rare inborn errors of metabolism, latterly with special reference to lysosomal diseases: he has authored numerous original articles including reviews and research publications. Recently he has conducted therapeutic research in gene transfer as well as clinical trials leading to the global approval of two therapies for Gaucher disease, an ultra-rare disorder. An Internist and Metabolic Physician, he is an Editor and author of The Oxford Textbook of Medicine, of which the 6th Edition is in late-stage preparation.
Dr Gemma Chandratillake
TrusteeGemma is Education and Training Lead in genetics for the East of England. She is trained as a molecular geneticist and genetic counsellor. She has a long-standing interest in rare genetic diseases, having used both fruit flies and worms to model alpha-1-antitrypsin deficiency and Niemann-Pick type C disease in the lab. In Feb 2012, Gemma joined the Stanford University spinout company Personalis, Inc., and developed a clinical genomic sequencing test for the diagnosis of individuals with rare disease.
If you’d like to know more about Cambridge Rare Disease Network, or if you have any questions about our activities or partnerships, please contact us: