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.
I live in Leeds with my wife, Miriam, and our three children; Sam, Jack and Ellie. My eldest son, Sam, was diagnosed with NP-C 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 was elected as Chair for the charity.
As Chair I will be even more involved with helping to set the direction of the charity and ensure that we strive to do the best for those affected by Niemann-Pick diseases, which will include representing NPUK and our community at scientific conferences, meetings with pharmaceutical companies, drug regulators and other rare disease charities. As well as writing articles and giving presentations to the rare disease community, families affected by NP-C, doctors, nurses and scientists. I hope my efforts will lead to a positive future for NPUK and our amazing community.
When I am not too busy with all of that, I work as a GP, try to watch the occasional game of rugby and go out for the odd run and bike ride!
My daughter, Hollie, was diagnosed with Niemann-Pick Disease Type C (NP-C) 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 NP-C in our local community.
I became a Trustee for NPUK in 2009 and in this role I see myself as a parent advocate first and foremost; someone who can assist and represent those families who are affected by Niemann-Pick disease and help signpost them to the various support and information services offered by NPUK.
In 2014 I became founder of the Hope for Hollie Foundation. As a grant-giving charity the Foundation offers financial support to families affected by NP-C 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 NP-C across the world and has now been translated into nine different languages!
I qualified as a paediatric nurse in Leeds back in 1981 and since then I have worked in many areas as a staff 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 also 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.
I have over 25 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.
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 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. 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.
As a member of the Board of Trustees my aim is to put my background experience within the UK healthcare system to good use. I achieve this by providing a link between the Department of Health and the NHS, representing NPUK at regular meetings with the Specialised Health Care Alliance, and keeping the rest of the trustees up to date on healthcare reforms and developments in the provision of highly specialised services for Niemann-Pick disease.
My work on grant applications has helped NPUK to develop to the stage that it is at today, as we have been able to widen the scope of our services to families. With every passing year we are, as a charity, only getting bigger and better and it is the real positive influence that we have on people’s lives that makes NPUK such a special charity.
Before retiring I was a GP with a professional focus on children’s health in practice and have since continued with this interest by becoming involved in brilliant charities such as NPUK and Challenger Children’s Fund. I was Business Partner at my GP practice and was previously the treasurer of my local church, which is what I feel makes me well suited to the position of treasurer for the NPUK on the Board of Trustees.
My son, Colin, is a close friend of both Will and Miriam Evans, and is Godfather to their son Sam who has NP-C.
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 (NP-B) 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’ve worked with NPUK in a professional capacity since 2009 and joined as a Trustee in March 2016. I’ve particularly focused on raising the profile of Niemann-Pick disease both in the UK and at an international level. This will ultimately 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'm hoping to bring this experience and skill set to the team, which alongside my enthusiasm to help in anyway I can, I'm hoping to make a true difference to those affected by Niemann-Pick disease.
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 NP-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.
My association with NPUK started when my daughter was diagnosed with Niemann-Pick Disease Type B in 2012.
After attending our first Family Conference I quickly realised that there is more to this wonderful charity than meets the eye. As a parent, having a “voice” is important as it helps to deal with the effects of having a child with such a life-limiting disease. I started attending the board meetings and realised that I could help in making a difference.
I am honoured to be part of NPUK and my background in Project and Quality management complements the skills of the other Trustees. My aim is to make a positive contribution in raising awareness of Niemann-Pick disease.
Simon is Medical Advisor to NPUK. He is a Consultant in Paediatric Inherited Metabolic Disease at the Willink Biochemical Genetics Unit (Royal Manchester Children's Hospital), 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.
Dominic Walker is the Bishop of Monmouth in Wales and was formerly the Bishop of Reading, England. He has a particular interest in the church's ministry to the sick and has completed post-graduate education in the psychology of religion and mental health, producing a major report (A Time to Heal), and maintaining a dedicated presence in various charities.
When asked why he agreed to become a NPUK patron, Bishop Dominic replied with: “I was interested to learn about NPD because it is not a well-known condition, and although comparatively rare, it is devastating for the families and people living with it. I know that campaigners have to work hard to provide personal support and to achieve governmental, medical, and pharmaceutical action. I am happy to lend my name to such a worthwhile cause.”
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.
Nick studied violin and piano at the Royal Academy of Music in London and later began his professional career as a violinist with the Bournemouth Symphony Orchestra. In 1980 he moved into orchestral management, working with the Royal Liverpool Philharmonic Orchestra for two years as administrator and later took on the role of Concerts Director of the Ulster Orchestra in Belfast.
Nick Mathias got involved with NPUK after Tony Jellings (whose daughter has Niemann-Pick disease) asked if he would become patron of the charity. Nick said: “I was delighted to accept in order to help in any way I can assist in raising funds for the charity in the hope that, at some point in the future, a cure will be found to alleviate such suffering. As we know in life, one’s health is everything, and good health is something we all tend to take for granted. It is only when one comes into contact with people who are suffering from such a disease as Niemann-Pick that we start to really value what we do have. We should all use this as motivation to strive to help those who aren’t as lucky.”
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.
Kim Stratton, Chief Executive Officer at Orphazyme, commented, “We are delighted with FDA’s decision to grant Breakthrough Therapy Designation to arimoclomol for NPC. Arimoclomol has been shown to have a clinically meaningful effect on disease progression in NPC that is further supported by a biomarker effect indicating an effect on the biological underpinnings of the disease and a favorable safety and tolerability profile. We are committed to bringing this product to patients as soon as possible. Breakthrough Therapy Designation is designed to expedite the development and review of products for serious diseases with the direct involvement of senior staff and we look forward to working closely with the FDA to further advance arimoclomol. Our preparations for filing in the US are underway and we are on track to submit a New Drug Application in H1 2020.”Read more