CARE PROVIDER QUESTIONNAIRE
As we are a national charity, the Advice Service often sees first-hand the disparity in the level of care and support that is provided across the UK to our members, from care and support agencies. With this is mind, we would like to ask for your feedback please on your experiences in this area.
We have devised a five minute questionnaire (longer if you have a lot to say!!!) asking you some targeted questions about the quality of support you currently receive, or have received in the past.
The questionnaire is not for people who use their direct payments to recruit their own personal assistants; rather it is targeting those of you whose care is provided by agencies, as part of your care plan.
We are interested in both the good and not so good experiences, to help us form a picture of what is happening nationally. It would be great to draw on real life situations, to help us to advocate on your behalf, in order to improve future services.
Please click below to complete the questionnaire.
RESEARCH AND COLLABORATION
Research is an integral part of the history and future of Bardet-Biedl Syndrome UK and enables us to improve the lives of those with the syndrome through better management and treatments and in understanding the underlying causes of the syndrome. As a charity, we have been primarily patient support focused and are only just starting to consider our role with regards to research and collaboration with the scientific and medical professionals across the globe. Our aim is to engage with rare disease research, to share experience and knowledge of our genetic condition with others and network with similar organisations. Most importantly, we wish to share and publish updates regarding research to our members and patients.
BBS UK has developed its research policies to support us in future collaborations and have a comprehensive Research Policy and Guidelines, Scientific Advisory Board Policy and Research Statement and Pharma Policy which can viewed or downloaded at the link below.
RESEARCH AND STUDY OF BBS
Professor Beales is based at The Institute of Child Health/Great Ormond Street Hospital where he heads the Cilia Disorders Laboratory. Together with collaborators from Europe and North America, his group have made major advances in our understanding of the causes of Bardet-Biedl Syndrome. This includes the notion that abnormally functioning cilia (small finger-like appendages on cells) lies at the heart of BBS. The challenges ahead involve understanding how dysfunctioning cilia contribute to various syndrome aspects. Professor Beales has been medical advisor to Bardet-Biedl Syndrome UK since 1996 and was made President of the charity in 2005. In 2010, he established, with the support of BBS UK, National Multi-disciplinary Clinics, with a comprehensive genetic testing platform for all persons with BBS in England and Scotland.
BBS UK would like to thank Professor Beales, Dr Elizabeth Forsythe and all of the research team for their dedication and support to BBS members and patients and most of all our thanks go to those who have had such an integral role in shaping the future of BBS by taking part in research studies.
During the BBS UK Annual Conference in 2017 Professor Beales provided an update on the research and study of BBS. He looked back at the involvement and support of BBS patients who have made a huge difference to the scientific community and ultimately to the patients themselves, he said “I've been absolutely overwhelmed by the involvement that BBS conference delegates and patients have had in these advances, it's absolutely astounding. In 1999, 109 patients took part in the first paper and one of the largest surveys to date, which helped us establish the diagnostic criteria for BBS. I'm proud to say that this many years later, the paper is still held up as the main criteria in clinics all around the world for making a diagnosis of BBS.”
Professor Beales updated delegates on the work of the PhD students who are making great advancements in their research in helping us to understand more about how BBS occurs, what the mechanisms of disease are. Also developing the resources that might be useful for later treatments, especially in determining what is going wrong in the eye and working out why people are going blind and providing us with the resources to understand how kidney disease arises in BBS.
Professor Beales reported, “The area where a lot of progress has been made is gene therapy, which involves introducing the fully functioning version of the faulty gene back into an individual, for example in the eye. Because BBS affects different organs, we want to look at other parts of the body and I'm really pleased to announce we’ve signed a deal with a funding agency called Apollo Therapeutics. We're the first research group at UCL that has been given money to develop a gene therapy programme. Not only does this allow us to do the pre-clinical part, the animal studies, proving that they all work and that it's all safe and so on, but they've also promised us that they will look towards funding the clinical trials which is really quite promising.”
If you would like to read Professor Beales full update on the research and study of BBS please read our 2017 Annual Conference Report which also contains all of the speakers reports and is a very useful resource in sharing up to date information from the professionals who attend.
The Secret to a Bigger Better Brain
The ‘3 Minute Thesis’ competition (3MT) celebrates research conducted by PhD students around the world. The premise of the competition is simple: PhD students are set the challenge of explaining their research project to a non-specialist audience in just three minutes.
This entry by Dr Elizabeth Forsythe won the competition for University College London in 2018 and has been entered for the national semi-finals. It explains what happened when a group of children with the ciliopathy Bardet-Biedl Syndrome took part in a research study aiming to improve their memory and brain capacity. The exciting results show that our genes are not our only destiny, and that exercise really could be the secret to a bigger, better brain.
Dr Helen May-Simera studied biochemistry at the University of Bath. After completing her Master’s degree in 2003 she started working on her PhD with Prof. Beales at the Institute of Child Health, University College London. This is when she started researching the molecular mechanisms underlying Bardet-Biedl Syndrome. In other words, she was trying to understand what causes BBS on a cellular level. In patients with BBS, the primary cilia don’t function optimally. Primary cilia are small eyelash-like protrusions on the cell membrane, which have a variety of functions. Like ‘biological antennae’, they receive information from the cell’s environment ‒ information that is crucial to how the cell develops and differentiates. Because so many BBS patients develop problems with their vision, she went on work at the National Eye Institute in the USA. Since then her research has focused on understanding what cilia do in cells of the eye. In 2015 she was able to start her own research group at the Johannes Gutenberg University Mainz, in Germany. With her small but dedicated team of scientist and motivated students, she is continuing to identify the cellular processes that cause BBS and is trying to identify ways to support cellular function when cilia are defective. For more information on the current research in the lab visit www.agmaysimera.com/
Current lab members:
Viola Kretschmer: Lab Manager, Sarita Patnaik: Post Doc, Sandra Schneider: PhD student, Lena Brücker: PhD Student, Ann-Kathrin Volz: PhD Student, Tommy Sroka: Masters Student, Aalaa Farag: Masters Student.
EURO-WABB is a European research project within the field of rare diseases. Project partners include clinicians, scientists and patient groups with representation from six EU countries and in collaboration with the Association du syndrome de Wolfram. It is a direct result of the first international meeting on Wolfram syndrome, set up by Mme Nolwenn Jaffree, in Paris in October 2009.
Funded by the EU Directorate General for Health and Consumers (DG Sanco), the project began on 1st January 2011 and ran for three years. Through EURO-WABB, they aimed to provide faster diagnosis, more research, and support better medical care for patients with Wolfram, Alström and Bardet Biedl (WABB) syndromes across Europe. WABB syndromes are rare, with patients in every country. There are as yet no specific treatments for these diseases. Research was not coordinated well, and scattered in different laboratories throughout the EU. The lack of specific health policies for these diseases and the scarcity of expertise often resulted in delayed recognition by doctors, and difficult access to care for patients.
In the EURO-WABB project, a registry of patients was set up in Europe and added a central database of patients, held in University of Glasgow, UK. The information collected informed international guidelines on management of the diseases and the establishment of multidisciplinary clinics for patients around Europe. The registry was incredibly useful to researchers including pharmaceutical companies developing orphan drugs, endocrinologists caring for the patients, specialist health care providers and also for the rare diseases community.
PubMed comprises more than 24 million citations for biomedical literature from medline, life science journals, and online books. Use Pubmed to search for medical literature including recent research into BBS.
The syndrome is often divided into two entities: Laurence–Moon syndrome and Bardet–Biedl Syndrome (BBS), but there is considerable phenotypic overlap....