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Answering questions about a rare genetic disease

Patients with rare conditions, and the clinicians that work with them, often have far more questions than they have answers. In the rare disease community there is significant unmet medical need and patients are reliant on the development of new medicines to improve their quality of life.

Many rare diseases are poorly understood which means the development of effective treatments can be more time consuming and expensive than it needs to be. For new therapies to treat these — often lifelong and life limiting — conditions to be developed, investments in disease research need to be more strategic. We must ensure that there is less duplication and that assets and data are shared effectively and to the benefit of patients.

Because understanding is so low, and treatments so scarce, it’s crucial that right from the beginning, throughout the whole pathway of research and development, research takes the priorities of patients into account.

Patient groups report that research is often led by what professionals in the industry believe to be easily measurable criteria, rather than aiming research at what patients believe to be the most important aspects of their conditions, such as quality of life.

To solve this problem researchers, and the funders of research, need to collaborate with patient groups and clinicians throughout the process. We believe that incorporating the views of patients and clinicians in this work would make major, positive changes to priorities at many stages in the medical innovation process.


The current situation in many disease areas is that the patients affected by a condition are not engaged in research on their disease until the later stages (usually around recruitment into trials). As a result, it is not particularly surprising that researchers run the risk of picking areas of study that do not match up with the priorities of the clinicians working in the area or that of the patients and their carers.

A ground-breaking group of stakeholders have come together to form a Priority Setting Partnership (PSP) to tackle this problem for patients affected by rare anaemias.

Facilitated by The James Lind Alliance, PSPs are groups which bring together stakeholders to set priorities for research in a particular disease field. They aim to facilitate the inclusion of patient voice at the centre of priority setting and have collaboration at their core. One clinician involved in the rare anaemias PSP said:

“Since I started being involved in the James Lind Alliance (JLA) PSP, this has changed how I practice medicine.  It has changed my understanding of what it means to listen to patients.  It has changed the language I use when I speak with them.  Most importantly, it has changed my vision of how to deliver the care we give them.  It has made it our vision.”


The aim of a PSP is to bring patient, carer and clinician groups together to identify questions about treatments which have not been answered by existing research. The group will then identify the priorities and produce a ‘top ten’ style list of jointly agreed research priorities for the community. These can then be circulated widely and be promoted to researchers and research funders.


The PSP on rare anaemias, which is being run alongside a PSP on rare musculo-skeletal conditions, is the first time that the PSP model has been applied to any rare disease. The model has been highly successful in other, more common, disease areas. We hope this will lead the way for other areas of rare disease to benefit from a patient led research agenda.

At Genetic Alliance UK, we are very keen that these first rare disease PSPs are a success. If they bring the value we expect they will to the rare anaemia research arena, then we can expect more rare disease PSPs will follow. This will bring much needed attention to the need for research into rare diseases. So even if you do not stand to benefit from this one, make sure you help spread the word!


The Priority Setting Partnership for rare anaemias is now launching a survey to find out what questions about rare inherited anaemias researchers need to answer. The priorities can only reflect what patients want to know, if we can get enough patients to take part in the survey.

The rare inherited anaemias PSP is looking to hear from anyone who has a rare inherited anaemia from the list below, is a family member or carer of someone with it, is a health or social care professional caring for people with a rare inherited anaemia or is part of an organisation representing patients and families with the conditions.

They are looking to hear from people who have the following conditions:

  • Diamond-Blackfan Anaemia
  • Congenital Dyserythropoietic Anaemia
  • Congenital Sideroblastic Anaemia
  • Red Cell Membrane Disorders
  • Red Cell Enzyme Disorders
  • Transfusion-Dependent Unexplained Inherited Anaemias

Take the survey here.

If you have any questions about the survey or the Rare Anaemia’s Priority Setting Partnership please contact

Judith Rogers, Assistant James Lind Alliance Project Co-ordinator at NIHR Oxford Biomedical Research Centre by phone (01865) 223298 or email: [email protected]create new email

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