Research & Surveys
Research & Surveys
Arthrogryposis is not very well known among health professionals or the general public.
Thankfully various medical and support organisations are becoming aware and are including Arthrogryposis in their research. Some are big research projects others small calls for ideas. They need your help – since you are the experts! Please get involved in research or surveys (mostly online) so your experience can help us all.
Arthrogryposis is being included in more research by NIHR Bioresource
The Birmingham Children’s Hospital Arthrogryposis Team and The Arthrogryposis Group along with the teams at Newcastle, Manchester and GOSH, presented a proposal to NIHR Bioresource – Rare Diseases to collect information and blood samples on all patients with Arthrogryposis who are prepared to volunteer. Our proposal has been accepted and Arthrogryposis will be one of the first rare diseases to be studied in this way.
The NIHR BioResource – Rare Diseases (https://bioresource.nihr.ac.uk/about-us/about-the-bioresource/) has been established to identify genetic causes of rare diseases, improve rates of diagnosis and enable studies to develop and validate treatments; thus improving care for those with rare diseases and their families.
The project to collect blood samples and information from volunteer patients with Arthrogryposis will start at Birmingham Childrens Hospital, hopefully in a few months, and then be rolled out to other participating centres across the UK.
So, be prepared to be invited to join this study at your clinic appointment……
This will be a very exciting opportunity to develop research projects from this database and also to encourage early appropriate referrals to the centres that specialise in managing the condition.
Genetic Alliance UK Survey
Genetic Alliance UK is doing a piece of work relevant to you, and hope the Arthrogryposis Group might like to be involved. A letter from Louise Coleman at Genetic Alliance UK explains:
The Human Fertilisation and Embryology Authority (HFEA) has received an application to licence preimplantation genetic diagnosis (PGD) for distal arthrogryposis multiplex congenita type 2B, also known as Sheldon-Hall syndrome. This means that a couple in the UK with a family history of the condition have applied to use PGD to conceive a child who would be free from the disease. You can find out more about the reproductive technique, and preimplantation genetic diagnosis, here, and the HFEA call for information on this condition.
When the HFEA committee makes a decision on whether to licence PGD they make this decision based on whether they think that the condition is ‘sufficiently serious’. We provide statements to the HFEA detailing the effects on an individual from the perspective of patients (rather than the clinical aspects of a condition). To fairly represent the ways that some patients could be affected by the condition, we outline the worst-case scenario for those affected.
We hope to provide some patient voice on the issue and to aid us in this work have developed a survey which we would be really grateful if you could fill in. If you feel it is appropriate we would also encourage you to disseminate the survey to patients with the condition (and their families and carers). We feel that it is really important for patients to have a voice in the process of licensing for this reproductive technique, and your input would be invaluable in this.
“The answers from the survey will be used to develop a statement detailing the way that the condition affects those who have the condition from a social and psychosocial point of view. This would then be submitted as evidence to be considered by the licensing committee at the HFEA. We would, of course, be happy to submit this jointly with your organisation.
Please let me know if you have any questions.
Louise Coleman | Policy Analyst
Genetic Alliance UK, CAN Mezzanine, 49-51 East Road, London, N1 6AH
T: +44 (0)20 7831 0883