We are dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases. We raise much needed awareness, provide practical and emotional support, advice and information and facilitate research into potential therapies.
NPUK is governed by a Board of Trustees who are responsible for ensuring that funds are used solely to meet the aims and objectives of the Charity. They meet each quarter to resolve any strategic or operational issues and to monitor the delivery of support services.
My daughter, Hollie, was diagnosed with Niemann-Pick Disease Type C (NPC) in July 2007 at two years of age. From the very beginning the support and advice my family received from NPUK was invaluable and was the main reason why I wanted to be part of NPUK. As a result of this my husband and I set up the Hope for Hollie campaign in 2008 to raise awareness of NPC in our local community. In 2009 I became a Trustee for NPUK, a role which was a privilege to serve.
In 2014 I became founder of The Hollie Foundation (also known as Hope for Hollie). As a grant-giving charity the Foundation offers financial support to families affected by NPC for items such as specialist equipment and is able to provide vital grant funding to other charities and research institutions working in the field of Niemann-Pick. The Foundation has been able to collaborate with NPUK on several projects, one of which includes the acclaimed short film Imagine, which has been highly successful in raising awareness of NPC across the world and has now been translated into nine different languages!
In 2022 I became joint Chair with Joella Melville. I see myself as a parent advocate first and foremost; someone who can understand and empathise with the families who are affected by Niemann-Pick diseases, and as such in the role of Chair I hope to help set the direction of the charity ensure that we strive to do the best for those affected by Niemann-Pick diseases and ensure that nobody feels alone during their diagnostic journey.
I’ve worked with NPUK in a professional capacity since 2009 and joined as a Trustee in March 2016. In 2022, I became joint Chair with Helen Carter, and in this role, I will be particularly focused on raising the profile of Niemann-Pick diseases both in the UK and at an international level by representing NPUK and our community at scientific conferences, meetings with pharmaceutical companies, drug regulators and other rare disease charities alongside Helen. As well as writing articles and giving presentations to the rare disease community families affected by NPC, doctors, nurses and scientists. Raising the profile of NPUK will speed up the time to diagnosis and allow earlier access to care, support, and treatment, which can have a huge impact on quality of life.
My background is in healthcare communications and I will bring this experience and skill set to the role of Chair, which alongside my enthusiasm to help in anyway I can, I hope will make a true difference to those affected by Niemann-Pick diseases.
I have over 30 years' association with Niemann-Pick disease and NPUK. It has always been my primary interest to understand the medical science behind the disease(s), keep abreast of progress and seek effective treatment. It is important to me to have some understanding of what the professionals are doing, to understand the limitations of what is possible and to advise the charity trustees on how best to invest research funding. Having had a daughter with Niemann-Pick disease, I am acutely aware of the challenges facing other families in relation to the disease.
I have learnt about the significant challenges associated with early diagnosis and treatment of neurological diseases and the need for research into preventative measures. One of these is newborn screening which in the UK, has fallen well behind other nations with similar medical science capacity. This area of research is a parallel activity to development of treatment and will enable treatment to be administered at a time when it has the best chance of success.
In my working career I was involved in engineering and project/programme management, which required considerable exposure to organisational and project management needs in military and commercial environments.
I live in Leeds with my wife, Miriam, and our three children; Sam, Jack and Ellie. My eldest son, Sam, was diagnosed with NPC in 2008 when he was just a few months old, and we have been incredibly well supported by NPUK ever since. As a way of giving back something and to help ensure that others have the opportunity to access the same support that we do I joined the charity’s board in 2010 and in 2016 I became Chair, a role which I carried out for six years until 2022.
The six years that I served as Chair were such a privilege, and it was a huge honour to represent NPUK and our community at community events and rare disease meetings and conferences. I loved getting to know so many of our incredible NPUK community and being a part of creating a positive future for our amazing small charity.
I stepped down from Chair in 2022, with the role being filled by Helen Carter and Joella Melville who I am sure will be incredibly capable in guiding NPUK in our new chapter. I am very pleased to continue to be a part of NPUK as a member on the Board of Trustees.
I qualified as a paediatric nurse in Leeds back in 1981 and since then I have worked in many areas as a senior nurse including; general paediatrics, oncology, bone marrow transplant unit, cystic fibrosis unit, and neonatal intensive care. I completed my honours degree in biochemistry, genetics, and related subjects and hold an MSc in genetic counselling. At the Royal Manchester Children’s Hospital, I became the first nurse for families with Niemann-Pick disease. Despite retiring at the end of 2011, I continue to support NPUK as a trustee.
Since 2013 I have been actively involved with the International Niemann-Pick Disease Registry and currently lead on recruitment as Clinical Research Manager.
I joined the Board of Trustees as a family member in 2005, and since then I have been committed to supporting NPUK for the benefit of our families and community. I’ve seen, first hand, the positive effect this charity has on people’s lives and I am passionate about further developing the charity by building on our strengths to achieve our goals and meet the challenges of the future.
I was appointed Chair of NPUK in 2011 and since then have worked with the Chief Executive to strengthen the organisation and put in place policies and procedures that support the Good Governance of the Charity. In 2016 I handed over the reigns to the Chair Will Evans but continue as a driven member of the Board of Trustees.
I am extremely proud to be part of NPUK and my background as a senior manager across various operational and strategic development programmes complements the skills of other Trustees. Now retired, these combined skills help to ensure that we make decisions in the best interests of the Charity and in accordance with our aims and objectives for the benefit of our members. I hope you will be inspired by the work we do and be able to create awareness of these life-limiting diseases.
I’ve been a supporter of NPUK for many years and a trustee for most of these. I first became involved with this charity when my grandson was diagnosed with Niemann-Pick Disease Type B (NPB) at three years of age. Ever since I have been working hard to further the work of NPUK in providing care and support for those affected by the disease - this includes my own grandson who is now nineteen years old and off to university!
In 2007 I took on the rather challenging position of Conference Coordinator, which followed on from my role as Fundraising Coordinator – both of which put my excellent organisational ability and communication skills to good use.
I work for the Pharmacology department at the University of Oxford and joined NPUK in order to further the charity's understanding of medical research that could potentially have a huge effect on the lives of those affected by Niemann-Pick disease.
In fact, the studies my laboratory does in understanding and treating lysosomal storage diseases has already had a direct impact on how we understand and treat lysosomal storage diseases such as Niemann-Pick disease. An example of such an instance can be found in our pioneering of a novel approach to treating inherited metabolic diseases, which led directly to the development of an approved drug (miglustat) for type 1 Gaucher disease.
Currently our lab is focused on N-C, with ongoing studies on the pathogenic cascade, mechanisms of immune activation, biomarker identification and the trialling of therapies in a mouse model of the disorder. We are of course hoping for a positive breakthrough, which will ultimately help every individual affected by Niemann-Pick disease.
I first became aware of the Niemann-Pick diseases as part of my PhD-project (ca. 2007) where I tried to understand the interplay of heat shock proteins, lysosomes, acid sphingomyelinase and cell death. As part of these efforts, I collaborated with Prof. Konrad Sandhoff and Prof. Ed Schuchmann, but it wasn’t until after the publication of the data in 2010 and an invitation by a certain Professor Frances Platt to present these findings at a Biochemical Society meeting in London, that I became aware of how close the patient organizations, academics and clinician worked together in this field.
We are all in this together. I might not have a relative affected by Niemann-Pick, but since my first NPUK meeting, I have admired and respected the astonishing efforts being done by the NPUK at all levels. The hospitality, the openness, the passion and the perseverance by patients, caregivers, academics and clinicians involved and associated with the NPUK is something very special - it is something that has deeply affected me and kept reminding me of what is important in life. This is a special thing, and I would therefore like to give back to the community as best I can.
I hope that we stay open and keep the culture of helping and supporting each other, whatever our lot in this may be. I hope, and trust, that we together can aid in the development of not one, but several treatments for the Niemann-Pick diseases in the years to come.
Simon is Medical Adviser to NPUK. He is a Consultant in Paediatric Inherited Metabolic Disease at the Willink Biochemical Genetics Unit (Manchester Centre for Genomic Medicine), where he has worked since 2005. Prior to this he studied at Edinburgh University Medical School, where he completed a Bachelor of Science in Neurosciences, and also at Guy's Hospital and St. Thomas' Hospital where he trained in paediatrics.
He is currently the principal investigator for a number of trials of enzyme replacement therapy for lysosomal storage diseases.
After making an extraordinary debut in London at the BBC Proms where he played the Elgar Cello Concerto with the BBC Symphony Orchestra under Leonard Slatkin, Guy Johnston is very quickly becoming a true star on the international concert stage.
Since he burst on to the scene, he has enjoyed a number of successes with the London Philharmonic, BBC Philharmonic, City of Birmingham Symphony, English Chamber Orchestra, BBC Scottish Symphony, Royal Scottish National Orchestra, Orchester der Hessischer Rundfunk, Mussikkollegium Winterthur, Osaka Philharmonic, St. Petersburg Academic Symphony, Gavle Symphony, and Lithuanian National Philharmonic.
Highly esteemed conductors he works closely with include Yan Pascal Torteilier, Daniele Gatti, Leonard Slatkin, Robin Ticciati, and Alan Burbayev. Guy is also a founder member of the ‘Aronowitz Ensemble’ who have recently been invited onto the prestigious BBC New Generation artists series.
Steve Bassam became a member of the House of Lords in 1997 following the election of a Labour Government, but was previously the leader of Brighton and Hove City Council for 13 years. He was first educated at Sussex University (BA hons in History), and Kent University (MA in Social Work), after which he largely worked within local government. First as a legal adviser at Lewisham Law Centre (1979-1983), then with Camden Council (1983-1984) and after which he served as a policy adviser on police matters for the GLC under Paul Boateng. He later worked for the Association of Metropolitan Authorities and briefly the LGA (Local Government Association). His main political interests are in local government, education, health, crime and security.
The Rt. Hon. The Earl Cairns currently serves as Chairman of both the CDC Group PLC (formerly the Commonwealth Development Corporation) and Look Ahead Care Ltd. He is also a member of the Business Advisory Council of UNOPS, and a trustee of the Charities Aid Foundation and Diana Princess of Wales Memorial Fund.
Lord Cairns was Chairman of Voluntary Service Overseas (VSO) from 1981-2002, Receiver-General of the Duchy of Cornwall from 1990-2000, Chief Executive and Deputy Chairman of S G Warburg from 1992-1995, Chairman of the Commonwealth Business Council from 1997 to 2002 (of which he remains a board member) and Chairman of Allied Zurich from 1998-2000.
Professor Martin Rossor is currently both the Professor of Neurology and Chairman of Division of Neurology at the Institute of Neurology, London. He is also an honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery and St. Mary’s Hospital, London. Martin is also head of the Dementia Research Group and runs the Cognitive Disorders Clinic at the National Hospital for Neurology and Neurosurgery.
Marie's main focus is on lysosomal lipid disorders and so a substantial part of her work has been devoted to Niemann-Pick diseases. Her work has contributed hugely to the recognition of less common clinical forms of the disease and to the development of the current laboratory diagnosis test.
Dr. Marie T. Vanier received her M.D and PhD university degrees and medical training in Lyon, France and Gotheburg, Sweden respectively. She then spent the large majority of her career in Lyon, with highly respected positions as the Director of Research at INSERM (The French National Institute of Health and Medical Research) the head of a university hospital laboratory (1977-2009) offering services in biochemical and molecular genetics diagnostics of neurolipidoses and also an author on over 180 scientific articles and contributor to a number of textbook chapters and reviews.