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The Rare Inherited Anaemias Priority Setting Partnership is managed by a Steering Group and is chaired by an independent advisor from the James Lind Alliance. The Steering Group includes individual patient/carer representatives as well as representatives from advocacy groups, research funders and clinicians.
The role of the Steering Group is to develop and implement a Project Protocol that sets out the plans for the Partnership. The Steering Group is responsible for the timeline and budget for the project and is committed to producing a prioritised list of unanswered questions about rare inherited anaemias.
I am 51 and father to two teenage children with Diamond Blackfan Anaemia, In 1997 with my wife Sarah and two other DBA parents, I set up a parent support and advocacy charity (DBA UK) to help newly diagnosed DBA patients and their carers. I work in IT, specialising in digital delivery of research articles in STM journals.
I work for Genetic Alliance UK, the national charity of over 180 patient organisations supporting all those affected by genetic conditions. We focus on: innovation addressing unmet health need; commissioning of healthcare services and access to therapies; genetic testing and genomic technologies; and reproductive choice.
My interest is twofold: first from a paradigm perspective as this is the first time that a PSP has had this sort of scope focusing on a cohort of rare diseases; and second as a representative of those affected by these rare diseases, with a view to bringing the patient voice to this discussion.
I have an interest in Rare anaemias, as I have a rare anaemia. Having spent lots of time in various hospitals and having various treatments. If I can help with better and new treatment in the future, I would like to do so. Not only might it benefit me in the future it could benefit other people and anything that can help others, I’m very happy to help with.
I am a trustee of the Congenital Anaemia Network (CAN). Founded in 2015, CAN supports patients with any kind of rare inherited anaemia by connecting them to healthcare professionals, to patients with similar conditions, and to up-to-date medical guidance. CAN also funds medical research to improve our understanding of rare inherited anemias, to develop better treatments, and to improve rare anaemia diagnosis. We strongly believe that patient needs should inform research priorities. As such we are delighted to be involved in this PSP.
It took until I was 37 for me to obtain an accurate rare anaemia diagnosis. I believe that speedy diagnosis and effective treatment development is key to tackling this group of disorders and I am happy to be able to contribute to this.
As Director of Research at Genetic Alliance UK, I oversee our research activities which we undertake to drive and guide our policy work. Our research team is active in psychosocial and health economic research, and Genetic Alliance UK staff sit on advisory boards for a wide range of external research projects. Our ultimate aim is to use research to improve life for patients and their families – as such we are strongly supportive of the JLA approach to prioritise research activities.
I was recently diagnosed with CDA and was informed about the PSP by my Doctor.
I am a haematologist with an interest in rare inherited anaemias. I look after patients with different types of inherited anaemias, from sickle cell disease and thalassaemia to Congenital Dyserythropoietic Anaemia (CDA). My research focuses on the investigation of patients with rare or unexplained anaemias, and I also work on CDA Type 1. I feel that patients with these disorders don’t have a voice in setting the research agenda in this field. This partly comes from the rarity of the disorders, but also from the fact that there is a lack of joining up of the different patient groups. I would like to see all patients with various types of inherited anaemias get together to put their views forward, as so many of the issues will be in common between patients with different types of inherited anaemias.
After qualifying in Medicine at Nottingham University I specialised in Paediatrics and soon found that Haematology fascinated me. I became a Paediatric Haematologist at Sheffield Childrens Hospital and I am the clinical lead there for children and young people with red cell disorders. The long term involvement I have with most of my patients and their families, from diagnosis to adulthood is a great privilege. I hope that the perspective it gives me on managing people with a rare anaemia will be useful to the Priority Setting Partnership.
I have been Professor of Paediatric Haematology in the Department of Paediatrics at the University of Oxford since 2013 and was formerly Professor of Haematology at Imperial College London. I have been a consultant paediatric haematologist for more than 25 years specialising in the clinical care of patients with rare anaemias and research into their causes.
I am a Consultant Paediatric Haematologist at Great Ormond Street Hospital. My areas of interest are rare children’s haematological non-malignant disorders which include rare inherited anaemias, bone marrow failure syndromes and paediatric myelodysplastic syndromes. Great Ormond Street Hospital, in collaboration with Oxford, is conducting an NIHR (National Institute of Health Research) study which aims to investigate the genetic basis of rare marrow failure/myelodysplastic disorders to help families understand the diagnosis and the implications for siblings and their future outcome. I have a paediatric outpatient clinic which accepts referrals for children with rare haematological disorders, and we offer families the opportunity to participate in research. I also receive referrals for a second opinion as well as offer to review pathology slides if needed. I am passionate and enthusiastic about delivering a good quality service committed to improving outcomes for children with rare haematological disorders.
As a representative of the Anaemia Nurse Specialist Association I see this project as a way of increasing learning opportunities, sharing good practice and improving inter-professional working within the field of anaemic management across all disciplines
I am a paediatric haematologist with 14 years of specialist experience. My special interests include caring for anaemia in children, and I have been involved in clinical work in both rare and common causes of anaemia. I am interested in both diagnosing and treating anaemias and am involved in some innovative modern diagnostic work in this field through my association with the genetics laboratory at Kings College Hospital, where I am employed as a substantive medical consultant.
I am an experienced NHS manager with over 17 years of experience in the delivery of services in the acute setting along with commissioning of highly specialised services for rare and ultra rare conditions. I am an experienced facilitator and mentor, with the ability to work transparently, harmonising stakeholder’s objectives, including clinicians and patient groups, to deliver recognisable outcomes. I currently support a number of JLA PSPs as an adviser and use this process platform as a tool to learn more about different conditions/diseases.
Sandra Regan supports a range of Priority Setting Partnerships (PSPs) on behalf of the NIHR Oxford Biomedical Research Centre (BRC) and Musculoskeletal Biomedical Research Unit (BRU). She was involved with the first BRU PSP on hip and knee replacement for osteoarthritis, and is currently working with seven PSPs in the BRC and BRU.
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