Latest News From Genetic Alliance
News from our partners Genetic Alliance UK
Pledge for Patients
Genetic Alliance UK, along with Rare Disease UK and SWAN UK, launched the Pledge for Patients campaign in April asking prospective parliamentary candidates (PPCs) to pledge to three things if they were elected:
- Promote the implementation of the UK Strategy for Rare Diseases throughout the UK
- Press for improved diagnosis opportunities for families with undiagnosed conditions
- Work to bring down the barriers preventing the uptake of innovation by the NHS
To date a total of 234 signatures from PPCs from across all major parties have been received. Of these, 48 of them have been elected to serve as MPs in the new parliament.
Patient Reviews Needed for the British Medical Journal
The British Medical Journal (BMJ) is promoting the involvement of patients and their carers in setting the research agenda and in the design and conduct of research. It is also asking patients and carers to comment directly on the value to patients of the research papers that are submitted to it.
To help do this the BMJ is growing a database of patient and carers who are willing to give their views on the relevance and usefulness of these papers. No expertise in scientific peer review is needed – it’s the experience and insights of living with illness, chronic conditions, and frailty etc and caring for and advocating for people that counts.
Full guidance on what the BMJ are seeking is given here
Examples of Good Practice in England
The NHS England Expedited Diagnosis Working Group is asking for examples of good practice in the diagnosis of rare diseases.
Ideally it would be the type of story where someone suspected a problem, had their concerns taken seriously by a healthcare professional that they approached (i.e. GP), appropriate action was taken and then they received a prompt diagnosis.
The working group are hoping to use this anecdotal evidence to identify patterns of good practice that can be generalised in some way. Participants will be anonymous.
If interested in taking part please contact Public Engagement Officer Alice Hazelton from Genetic Alliance at firstname.lastname@example.org
Genetic Alliance have been approached by production company Tigress Productions who are looking to raise awareness of rare, genetic and undiagnosed conditions. They are looking for patients and consultants who are willing to share their story.
There are 2 kinds of story that they are looking for:
- Testimonials – cases that have been solved (in the past 5 or so years) that they can re-tell from the perspective of the specialist and the patient.
- Active Cases – Where a patient is in the process of being diagnosed or being treated by a specialist
The current title of the documentary is 'Medical Mysteries' however, the production company has said the "mystery doesn't have to be that mysterious - it just has to pose a specialist with a number of options in terms of finding a diagnosis".
If you are interested in taking part in the Documentary you can contact Gemma Greene by email: email@example.com or by telephone: 0117 933 5620
Nuffield Council on Bioethics have produced a report Children and clinical research: ethical issues that looks at the ethics of involving children in research, and at the roles and responsibilities of children, parents/guardians, and professionals.
They have produced a short animated film with the help of young people to showcase the importance of involving young people in the research process.
You can find more information on the Nuffield Council on Bioethics here
Research Centres in Wales receive 18m investment
The Welsh Government announced a three-year package of funding that will be invested in eight dedicated research centres and units across Wales in areas including rare diseases, cancer and mental health. The Deputy Minister for Health, Vaughan Gething attended an event last Thursday to announce the funding.
Genetic Alliance’s Development Officer in Wales attended the event where the Deputy Minister also announced the restructure of the National Institute of Social Care and Health Research (NISCHR) which has been re-named as Health and Care Research Wales, the body which develops research and social care policy.
The Wales Gene Park which promotes and facilitates medical genetic research and educates and informs the public, health professionals and young people about the issues and opportunities raise by genetics will benefit as part of this package of funding. It will continue to focus on a number of specific areas of research including rare diseases, cancer, neurogenetics and mental health.