Cambridge Rare Disease Network is a newly established charity working to build a community of people in Cambridge to address the unmet needs in rare disease research and treatment. Our trustees include some of the UK’s foremost experts in rare diseases, and our founding members come from diverse backgrounds in academia, business, healthcare and patient support networks.
Medical research and drug development have transformed the outlook of countless people living with diseases that were formerly untreatable. Our challenge now is to create and maintain a climate that fosters innovations in health while providing widespread access and meeting therapeutic needs.
CEO – Kay Parkinson
Kay 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.
In 1998 she founded the charity Alström Syndrome UK (ASUK). Kay served as their CEO for 15 years before stepping down in 2013 to start up Alström Europe (AS EU) charity. In 2015 Kay joined the Cambridge Rare Disease Network as Chief Executive she believes all rare diseases need to work together for better diagnosis, treatments, services and a much needed higher public profile.
Events Director – Jo Balfour
Jo is a founding member of CRDN and is a steering group member. She manages the annual conference and networking and educational events and is founder of the Unique Feet rare dance and community support group. She also supports the organisation of CRDN’s fundraising events.
Jo is an experienced teacher of 25 years with specialisms in special educational needs and children in care. An advisory teacher for Cambridgeshire’s Virtual School for Looked After Children, she supports and challenges schools to provide the best care and be aspirational for marginalised and vulnerable young people with exceptional circumstances. She uses her knowledge of SEND best practices and processes to support and advise patients and families living with rare disease in our community in achieving best outcomes in education .
The CRDN was co-founded by Dr Jelena Aleksic and Dr Tim Guilliams, 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 is CEO of GeneAdviser, making it easier for doctors to order clinical genetic tests, and Tim is CEO of Healx, repurposing approved drugs to create new therapies for patients with rare diseases.
Board of Trustees
Dr Tim Guilliams, Trustee
Tim 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).
Prof Alan Barrell, Chair and Treasurer
Alan 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.
Flóra Raffai, Trustee
Flóra Raffai is the Chief Executive of Cam Sight, a charity supporting people with visual impairment and blindness in Cambridgeshire. Prior to this, she was the Executive Director at Findacure, a UK charity building the rare disease community to drive research and develop treatments.
Flóra graduated from the London School of Economics with a BSc (hons) in International Relations and she is currently enrolled in a part-time MSt in Social Innovation at the University of Cambridge Judge Business School. Alongside this, she is also a founding member and trustee of the Cambridge Rare Disease Network.
Gemma Chandratillake, Trustee
Gemma 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.
Since moving back to the UK, Gemma has focused on healthcare professional education in genetics, and coordinates the Masters course in Genomic Medicine at the University of Cambridge. At CRDN she is interested in working with stakeholders (clinical, academic, industry, and families) to find creative ways to mainstream genomics within the NHS for the benefit of patients with rare disease.
Tim Cox, Trustee
Timothy 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 Cox’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.
Sarah Leiter, Trustee
Sarah 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.
Together with her personal experience of living with a rare condition, Sarah’s research has highlighted the impact that research and good clinical care can have on patients. Sarah is now in the final year of her medical training at the University of Cambridge and is hoping to pursue a dual career in medicine and research.