Newsletter for the National Collaborative Usher Study Issue 5 Winter 2007-8 Hello again and welcome to this, the final issue of our Newsletter from the National Collaborative Usher Study. Since I last wrote, Dr. Zubin Saihan and Dr. Nell Rangesh have completed all the vision, hearing and balance testing. In all, 220 people with Usher underwent clinical investigations, which have provided extensive knowledge on vision, hearing and balance function in Usher syndrome in UK families. The process of matching up the genetic results with the vision, hearing and balance results is now the main task. This phase requires careful checking and rechecking before a result is confirmed and before this information can be offered to the family with certainty. Dr. Maria Bitner, our senior scientist overseeing the molcular genetic work, explains what type of results may be shared with collaborating families. We also plan to send a letter to everyone who took part summarizing the main findings from the National Collaborative Usher Study when the work on matching the genetic results with the clinical results is more complete. Thank you, those of you who took time to complete the questionnaire about setting up a Dual Sensory Clinic in London. Penny Rudge, who kindly collated the answers which you sent, reports on the findings. Her full report can be found on www.sense.org.uk/dualsensoryclinic. The Dual Sensory Clinic, which, was started in July, is held once a month at the National Hospital for Neurology and Neurosurgery in London. Although it is very new, the value of combining the three disciplines under one roof is proving beneficial, not only to people who have dual sensory impairments, but also to the clinicians, in helping them to combine and pool their knowledge more effectively. You will be interested know that some of the early findings from the Hearing and Balance study were presented at a recent Open Day at the Institute of Child Health. Dr. Nell Rangesh, who also gained first prize for the best presented poster has kindly agreed for the information to go on the Sense website. It should be stressed that this is an early representation of the findings and is not the final picture. As more genetic information becomes available and new mutations are found the picture we now have could change. The language is scientific. For the link go to: www.sense.org.uk/usherstudy. On behalf of everyone who has been involved in the NCUS and all of us at Sense may I wish you a happy and joyful festive time with your families and friends. Thank you for getting and for staying involved. Mary Guest, Editor Project Manager E-mail: mary.guest@sense.org.uk In this issue • Audiology testing • 2006 Dual Sensory Clinic Survey • The Dual Sensory Clinic: Mark Pampel • Tribute to the Steering Panel • Reporting on NCUS findings • What happens next? Update on hearing and balance tests from Dr. Nell Rangesh The final phase of testing on the hearing and balance front was completed in May of this year. Many thanks to all of you who have taken part and completed the tests so patiently. Some have even volunteered to return if more tests are needed, and we have received some great letters from participants that have been amusing or reflective and always complimentary. This has made the project not only worthwhile but extremely satisfying from our (the scientists’) perspective. Two hundred and seven people have completed hearing and balance tests. Analysis of the hearing and balance tests has commenced and we are currently continuing to write to hospitals for old audiograms so that we may study the development/progression of any hearing loss. The return rate has been quite good. In response to the appeal for more audiograms in the last issue of the NCUS newsletter, some of you have unearthed old audiogram copies and posted them to us, which has proved very valuable in the analysis. Matching up the genetic results with the vision, hearing and balance results is ongoing. Some unexpectedly good hearing levels in a few with mutations in Usher type I genes is proving interesting, while relating mutations to the hearing levels and balance function may provide more clues to specific mutations within Usher genes. We have also found that some people have balance problems in spite of normal results on testing, and this cannot always be attributed to eyesight difficulties. We propose looking into the functioning of the static balance organ to explain this discrepancy as part of plans for a future study and would therefore be very grateful to recall those who have kindly offered to help in any further work. Overall the project has proved very valuable and due to the extensive testing that was performed, it has provided us with a wealth of knowledge on hearing and balance function in Usher syndrome. Such detailed testing has not been attempted previously in the UK and we hope to report back to all of you with informative and useful information in the near future. Genotype Phenotype Correlation in Usher Syndrome – recent poster presentation at the Institute of Child Health. Presentation of preliminary audiological and vestibular findings linked with genetic analysis. Further clarification of the phentype-genotype correlation will be possible once audiovestibular and genetic analysis are completed. 2006 Dual Sensory Clinic User Survey – a summary What we asked In 2006, Sense sent out a questionnaire asking members involved with the National Collaborative Usher Study their views on an Usher clinic. This would be a single clinic combining audiology, vision and genetic services, based in London. Overwhelming support was shown: 118 responses to the survey were received from people with Usher and family members. Of these 96% were in favour of a single Usher clinic and 92% were willing to travel to London annually to attend it. After subsequent discussions with the clinical staff, it was decided that the scope of the clinic should be widened to a joint dual-sensory clinic which would be available to anyone with combined hearing and vision impairment, not only people with Usher. What people said Respondents to the questionnaire felt that a joint clinic would alleviate their current problems of receiving disjointed service in multiple locations, often from staff who are not Usher-aware. “My local hospital has no idea – I think I’m their only Usher patient” “People with Usher have specialised (and changing) needs which could be much better met through a single clinic” They suggested many other services which could also be provided at the clinic. Information and counselling/mentoring were the most frequently mentioned, followed by research updates. They raised concerns, however, about the clinic’s location, and, although the need for a centre of expertise was recognised, there was also a demand for specialist local services. Not everyone wanted to attend a central clinic. “Agree that a core service with expertise and a dedicated team need to be established first” “Centre of excellence needed but a more central clinic...would help“ Finally, they pointed out the need to ensure that the clinic provided a high quality service in a way that was ‘Usher-friendly’. “I would like to see the best doctor available” “Travelling during winter daylight is an issue”. “I would be willing to attend a clinic in London if help available from mainline station to clinic” “At our current hospital we know all the staff and feel happy so no change please” What the survey showed From the very useful and often detailed responses, it is clear that successful implementation of the joint dual-sensory clinic will require: • “Selling” the benefits of a London location. People need to feel that the Usher expertise of London-based medical experts outweighs the inconvenience of travel. • Ensuring the clinic lives up to its ‘one stop shop’ promise. • If multiple appointments on different days are required, this will reduce the clinic’s appeal. • Providing Usher-friendly services in terms of environment and staff attitudes. • Allowing patients the choice to remain with local services because attending the clinic should be an option, not a requirement. What’s happening now? The Dual Sensory Clinic, which brings together clinicians with an expertise in eye disease, hearing loss and genetics is in the process of being set up at the Department of Neuro-otology at the National Hospital for Neurology and Neurosurgery, Queen Square, London in collaboration with the Eye Clinic, under the supervision of Professor Linda Luxon, in conjunction with Dr. Maria Bitner and Mr. Andrew Webster. We are pleased to announce that Sense is supporting the clinic by providing a staff member on clinic days for information and to discuss any non-medical concerns. It is planned to run the clinic once a month. Like other clinics, any patients with clinical problems relating to dual sensory impairment will need a referral letter from their GP. A letter of referral should be sent to Professor Linda Luxon, Department of Neuro-otology at the National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG. New eyes and ears clinic opens in London Mark Pampel On 5th July 2007 I felt very privileged to attend the first ever clinic for dual sensory impairment in London. This appointment was made possible via the National Collaborative Usher Study (NCUS), which is managed from Sense by Mary Guest, Principal Research Officer of Sense. Previously, I had undergone tests for my vision and tests for my hearing, and balance separately at different hospitals. With the introduction of the Dual Sensory Clinic at the National Hospital of Neurology and Neurosurgery, under Professor Linda Luxon, vision, hearing and molecular genetics can now be combined in one clinic. I attended with my father, and my first session was with Dr Maria Bitner who is a Clinical Geneticist. Mary asked me if I would like her and Marilyn Kilsby from Sense to sit in with us which I agreed. It was at this meeting, which I had been waiting for with much anticipation, that I received the conclusions of the National Collaborative Usher Study test results and a precise diagnosis of my type of Usher. A discussion then followed into areas of clinical research, support and even possible treatment in the future. If Dr Bitner did not have an answer to my enquiry, she was happy to refer me immediately to Professor Linda Luxon, who provided me with the information that I was seeking. “I found the medical professionals very helpful, patient and understanding of my needs.” This was a very satisfying and reassuring outcome for me. Additionally, Mr Andrew Webster, Head of RP Clinic at Moorfields Eye Hospital, carried out further eye tests using the latest specialist equipment. I was even offered state-of-the-art hearing and balance tests, which I undertook, to check if any changes had occurred. I found the medical professionals very helpful, patient and understanding of my needs. They advised me they would contact me for an appointment in a year’s time. I felt this arrangement very useful, as the thorough ongoing monitoring tests would only take a morning to be completed. All the results and findings will be kept securely in one clinic. I do hope, as both an active founder and committee member of Hearing Sight Impaired group, which is a branch of Sense, that this important initiative continues to be resourced to provide this much-needed service. Sharing the findings. Dr. Maria Bitner We are aware that most of you would like personal feedback and we will be in a position to provide this once the analysis is complete. For a few families, as in the case of Mark Pampel, the results were clear cut but for many the genetic results need to be checked and rechecked before the geneticist is satisfied that the correct information can be given to a family. Whilst genetic results from the National Collaborative Usher Study are still being analyzed it might be helpful to know what type of information to expect. For some of you who have taken part, both mutations (changes) will have been found, confirming the type of Usher you have and the gene, which is causing it. For some of you only one of the mutations will have been found. This will indicate the likely type of Usher you have and the gene responsible. In a few families the gene which is causing the Usher has not yet been discovered; DNA obtained from these families will need further new research. However, since the NCUS started in 2003, a further five genes responsible for Usher have been identified. Currently nine genes are known to cause Usher syndrome and there are many research centres now directing their attention to locating and identifying Usher genes worldwide. A tribute to the Steering Panel Mary Guest Since 2002 the National Collaborative Usher Study Group has been guided by the NCUS Steering Panel which has met every three months to review the progress in our research. Panel members included the project scientists who carried out the study in vision, audiology and molecular genetics; the senior scientists in these disciplines; Sense staff, and also two lay members, Nigel Marriott and Professor Tim Atkinson. Nigel is a statistician and is a member of Sense Council; he also has Usher syndrome. Tim Atkinson is a geologist and also has two daughters with Usher syndrome On behalf of Sense, I would like to thank all the members of Steering Panel for their time and the attention which they have given to helping the NCUS keep on track and, in particular, to mention the contribution which Nigel Marriot and Tim Atkinson have made to our deliberations. The final meeting of the Steering Panel was held in July 2007 and it was pleasing that Liz Cook, our Family Coordinator who did so much excellent work in recruiting our families, was able to join us. Two other people from Sense deserve a special mention, John Trevelyan, the Head of EU and Statutory Trusts and Melanie Gonsalves. John helped keep track of the Lottery payments which was very helpful to me as, Project Manager, and Melanie acted as appointments secretary when families came to London for the clinical testing which greatly assisted Liz Cook in her work. She also ably minuted the meetings of the Steering Panel. Dr. Polona le Quesne (formerly Stabej), molecular geneticist. “Deciphering such a complex condition as the Usher sydrome demands a lot of careful work and an excellent communication between patients, clinicians and scientists, The NCUS Steering Committee has done a wonderful job at leading and connecting all the people involved and it has been a pleasure and privilege to be part of the project”. John Trevelyan-Sense, Big Lottery link at Sense. “I’ve been really impressed by the commitment all the partners have shown to make the research such a success. From the shared vision in the planning stages, through to the recruitment and final research stages, everyone has worked with great enthusiasm and dedication. This work has proved the benefits that can be achieved when a charity such as Sense co-operates with key medical and research institutions”. Nigel Marriot, NCUS Steering Panel and Sense Council. “I am delighted to have been involved in Sense’s first ever medical research project and what a success it has been! Although the project itself is now at an end, what we have already learnt will benefit the Usher population for years to come. In addition we can expect further learnings to emerge as people study the rich data set that has been provided by the willing and enthusiastic participation of the 220 Usher people and their families. I would like to thank all the scientists and people at Sense for the way they helped all the families to participate in the tests and for the hard work they have put in during the last four years. In particular, I would like to thank Mary Guest who has led the project brilliantly. We all know the contribution she has made to Usher people worldwide over the last 25 years and I believe the NCUS is a wonderful legacy to leave to Usher people as she leaves Sense to enjoy a well-earned retirement”. Picture of the steering panel. Picture caption: Back Row (left to right): Mr. Andrew Webster, Moorfields; Dr. Maria Bitner, Institute of Child Health; Nigel Marriott, lay member and Sense Council; Prof Tim Atkinson, lay member and parent. Middle Row (left to right): Prof. Linda Luxon, Institute of Child Health; John Trevelyan, Sense; Melanie Gonsalves, minute secretary, Sense; Dr. Mazal Cohen, University of Manchester; Liz Cook, Family Coordinator, Sense; Dr. Nell Rangesh, Institute of Child Health. Seated: Mary Guest, NCUS Project Manager, Sense. NB: Missing from the photo is Dr. Zubin Saihan, who carried out all the vision work, Dr. Elene Haralambous and Dr. Polona le Quesne and Yasmin Hughes – molecular geneticists, and Louise Thomasson – assistant Family Coordinator. What is happening next? Everyone who has taken part in the National Collaborative Usher Study will be receiving a personal letter in due course about the overall findings. Arrangements for giving specific results, confidentially, to each person with Usher who took part are also underway for 2008. If you took part in the clinical investigations in London and you have changed address since September 2006, please send your new address to Sense c/o Melanie Gonsalves: melanie.gonsalves@sense.org.uk or by post to Melanie at Sense, 11-13 Clifton Terrace, Finsbury Park, London N4 3SR. Finally… Mary Guest Following on from Nigel Marriott’s kind remarks, this is to let you know that I have just retired from full time work at Sense, and this is the last issue of the NCUS Newsletter which has given me so much pleasure to edit. But I hope to see some of you at the Dual Sensory Clinic because Marylin Kilsby and I are providing the Sense support as it gets established. I am sure that I will also be seeing some of you when we get to the point of being able to share more outcomes from the National Collaborative Usher Study. Thank you all of you who have taken part in the National Collaborative Usher Study since 2003. It has truly lived up to its name and will, I believe, enrich our understanding of this major cause of genetic deafblindness in the UK in the next decade. The National Collaborative Usher Study was funded by grants from the Big Lottery Fund, the British Retinitis Pigmentosa Society and Defeating Deafness.