Look Forward Issue 161
April 2017
Registered Charity No.1153851
Inside New appointments Page 3 Annual Conference 2017 Page 4 AGM Notice Page 6 RP Awards Page 7 Fundraising Events 2017 Page 8
An exciting year lies ahead The evenings are getting lighter and spring is in the air! 2017 has got off to a busy start for RP Fighting Blindness; we’ve welcomed some great new members to our team, have been organising events for the year and are busy planning all kinds of exciting fundraisers you can get involved with. In this issue you can learn about our upcoming annual conference, the latest research news from the field and some of the ways you can support our work. The next few months are only going to get busier; read on to learn more about what we’re up to and how you can get involved!
New X-Linked Trial Page 10 Working Age Group Project Page 12 Families Conference Page 14 Legacy Giving Page 16 West Highland Way Trek Page 22 RPFB Events Calendar Page 24
NEWS
Letter from the Chief Executive Tina Houlihan A warm welcome to the latest issue of Look Forward; we have lots of exciting projects planned for 2017, and all our departments have been busy preparing for the year ahead. Our Working Age Group Project is launching, the fundraising team is preparing for this year’s West Highland Way Trek and we’re formulating 2017’s Patient Information Day programme. You’ll have recently received a mailing from us, detailing some of the events you can get involved with over the course of the year. Remember, if every one of our members found just one person to undertake a challenge for us in 2017 and raised £250, we would be able to fund a research centre for three years, so please do consider how you could get involved or could encourage others. RP Fighting Blindness funds medical research into inherited retinal dystrophies and offers a range of information and support services to patients and their families.
I hope to see you at our upcoming annual conference - it promises to be an interesting one, with some great speakers and a refreshed format. You can learn more about this on page four. Remember though, places are strictly limited, so do register early! Please do feel free to email me at chiefexecutive@rpfightingblindness.org.uk; all feedback and comments are welcome. Thank you for your ongoing support.
Do you follow us on Facebook and Twitter? Search for RP Fighting Blindness on Facebook to find our Page and various groups, and follow us on Twitter on @RPFightingBlind for the latest updates and news about the charity. PO Box 350 Buckingham, MK18 1GZ E: info@rpfightingblindness.org.uk T: 01280 821334 (OFFICE) T: 0845 123 2354 (HELPLINE)
NEWS
New appointments at head office We’re delighted to welcome two new members to the head office team in Buckingham; Emma Hughes, previously Development and Engagement Director at Visionary, the independent sight loss charity membership body, has been named as Deputy Chief Executive. Deborah Laing, previously Development Manager at Peace Hospice Care, has been appointed as Trusts & Major Donor Manager at the charity.
services and resources for those facing unavoidable sight loss.”
Deborah Laing has worked in fundraising for nine years, across a range of roles, and brings specific skills in donor development and relations to the organisation. “I’m pleased to be working with the charity and filling this new position,” commented Deborah. “I’m joining an Emma Hughes, who is established fundraising team and on a secondment from look forward to developing my role sight loss charity and helping build new strategies for Thomas Pocklington donor engagement and retention.” Trust, brings a wealth of experience and “2017 promises to be an exciting knowledge to her new year for RP Fighting Blindness,” role. Having worked in the visual commented Tina Houlihan, our impairment charity sector for more Chief Executive. “These two newly than nine years, she will be created roles are a mark of the overseeing the organisation’s sustained growth we are enjoying, increasing engagement and and they will allow us to further communications activities, as well develop key areas of the as overseeing outreach campaigns organisation. Emma’s knowledge and partnership projects. “I’m and experience of collaborative and delighted to have joined the partnership working, and Deborah’s organisation,” commented Emma. understanding of donor relations “We plan to reach out to more will prove highly valuable to us. I people affected by Inherited warmly welcome them both, and Retinal Dystrophies than ever look forward to their contributions before and help create better to our work.” 3
EVENTS
The RP Fighting Blindness Conference 2017 Members, patients, supporters, clinicians and researchers alike are welcome to attend the RP Fighting Blindness Conference on Saturday 24th of June 2017 to share information, research news and everything RP. We’ve been listening to your feedback and have refreshed our annual conference format - we’re at a new venue and have developed a more tailored programme, while retaining our respected medical speaker sessions and the ever popular RP Question Time. We’ve simplified the catering and made available more seating during breaks. This year the conference will be held at 1 America Square, 17 Crosswall, London EC3N 2LB. This venue is conveniently situated close to London Fenchurch Street, Tower Hill and Tower Gateway stations. You can learn more about this venue on the 1 America Square website: http://www.cavendishvenues.co.uk /city-conference-venues/
For the first time we’re incorporating workshop sessions into the afternoon. There are five workshops you can choose from: Genetic Management - covering the importance of genetic management and how genetic testing is performed. Retinal Implants - how the technology works and the latest updates. RNIB Connect - RNIB will present on its Connect community; explaining how you can connect with thousands of others in the UK and share experiences and socialise. Benefits - this workshop will cover and provide information about some of the benefits available to visually impaired people. Employment - this session will cover routes into work and support services available for visually impaired people.
Each of these workshops will accommodate up to 40 people. You will be asked which one you wish to attend when you register. We’ll do This one-day event is always an our best to accommodate your first important part of the RPFB calendar, bringing together over 150 choice, but this may not always be possible. people to hear from our expert speakers. The event also Members of RP Fighting Blindness incorporates the charity’s formal are welcome to take part at no AGM as the last session of the day. charge together with a partner or 4 The RP Helpline 0845 123 2354
EVENTS guide. Non-members are equally welcome at a cost of ÂŁ30 each, which includes refreshments all day and lunch.
Presented by Professor John Marshall MBE, RPFB Trustee
For members and non-members alike, it is essential that places are booked. Please contact head office on info@rpfightingblindness.org.uk or call on 01280 821334 to confirm the number of places required and to select the workshop you wish to attend. Please advise us of any communication needs you may have, and if you have any food allergies or intolerances.
Tina Houlihan, RPFB Chief Executive
09:00 Exhibition, stands and registration open
12:15 CEO conference address 12:30 Lunch Lunch is provided and the stands will remain open 1:30 Inspirational speaker: Steve Bate MBE Team GB Paralympic Cyclist 2:00 Workshop sessions Workshop places need to be chosen in advance 3:00 Tea and coffee break
09:55 Convene and Conference Welcome
With a chance to view the stands and chat
Don Grocott, RPFB Chairman
3:30 RP Question Time
10:00 Small Molecule Therapies
Chaired by Professor John Marshall MBE and joined by medical speakers
Professor Michael Cheetham
10:30 Correcting mistakes in our 4:30 Chairman’s Conference genetic make up to prevent disease address progression Don Grocott, RPFB Chairman Professor Tara Moore 4:40 Annual General Meeting* 10:50 Tea and coffee break 5:15 Event close With a chance to view the stands Programme subject to amendments and chat without notice. 11:30 Genetic Testing in RP - an *Annual General Meeting - agenda update for this session can be found on the Professor Susie Downes following page. 12:00 John Marshall Award RP This session covers the formal Scientist of the Year presentation business matters of the charity. 5
EVENTS Notice to Members of RP Fighting Blindness Annual General Meeting
6. Resolution: To appoint Davies Mayer Barnett as auditors
The RP Fighting Blindness Annual General Meeting (AGM) will take place at 16:40 on Saturday 24th of June 2017. All full members are entitled to attend, speak and vote at the AGM which will be at 1 America Square, 17 Crosswall, London, EC3N 2LB.
7. Resolution: The Reappointment of trustees.
Please note that though nonmembers are very welcome they will not be entitled to speak or vote on any resolution. Members of the charity not attending the main conference are still able to attend this session by arriving during the preceding tea break. Please collect your voting card on arrival. This will be the fourth AGM of the Charitable Incorporated Organisation (CIO) and we look forward to welcoming members to this meeting. Agenda for RP Fighting Blindness AGM 1. Chairman’s welcome 2. Introductions 3. Apologies 4. Approval of the minutes of the previous AGM 5. Annual Report and Accounts for 2016 (a) Introduction (b) Questions from the floor (c) Resolution: to adopt the Report and Accounts for 2016
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(a) The following trustees retire by rotation and are standing for re-election: Don Grocott Elizabeth Graham (b) Keith Valentine was appointed trustee by the board since the last AGM and so retires but is standing for reelection 8. Any Other Business 9. Chairman’s closing remarks
Proxy voting Any member of the CIO may appoint another person as a proxy to exercise all or any of that member’s rights to attend, speak and vote at a general meeting of the CIO. You can appoint someone to act on your behalf by informing RP Fighting Blindness in writing. This must state your name and address, the identity of the person you wish to elect to act for you and the meeting at which you are giving them permission to vote on your behalf. Written confirmation of proxy voting must arrive by 21st June and can be posted to: RP Fighting Blindness PO Box 350,Buckingham,MK18 1GZ Or alternatively emailed to info@rpfightingblindness.org.uk
AWARDS
RP Awards Nominations 2017 Nominations are open for the 2017 RP Awards - if you know someone who deserves recognition for their hard work and dedication to the charity, please let us know! There will be a display of this year’s winners at the annual conference in London.
The RP Fundraiser of the Year Award
The Roger Green Award for Special Contribution to the Charity
This award is made to a person who is contributing to the development and future of the charity.
This award was named for Roger Green who was a valued Trustee and had volunteered for the charity in various capacities for over 30 years. The award is made each year to someone who has contributed to our work, in any or various capacities, over a number of years. The John George Award for Volunteering This award was initiated several years ago by Muriel George as a way of memorialising her husband John, who was a long standing and valued volunteer for the charity. It is awarded to a volunteer who really has gone that extra mile in assisting the charity.
This award goes to a dedicated fundraiser each year, who has put in time and effort to help generate revenues for our work. The Lynda Cantor Award, for the future of the charity
The annual RP Awards are your chance to shout proudly about the efforts of a relative, friend or colleague who has worked hard on our behalf. Every day across the country our volunteers are raising awareness of the organisation and our cause, fundraising and helping those in the sight loss community. We want to hear from you about those who deserve recognition and we look forward to receiving your nominations! Please send your nominations to the office addressed simply to "Freepost RP" or by email to michelle@rpfightingblindness.org.uk. Please ensure nominations reach us by Friday 19th May 2017. www.rpfightingblindness.org.uk
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Find Yo Your 20 017 Will you pledge to take on a challenge in 2017 ? ZW &ŝŐŚƟŶŐ ůŝŶĚŶĞƐƐ ŝƐ ŐĞĂƌŝŶŐ ƵƉ ƚŽ ĨĂĐŝůŝƚĂƚĞ Ă ŶĞǁ ǁĂLJ ŽĨ ĨƵŶĚŝŝŶŐ ƌĞƐĞĂƌĐŚ͕ ŚĞ ĨƵŶĚŝŶŐ ĚĞƐŝŐŶĞĚ ƚŽ ŚĞůƉ ƉƌŝŶĐŝƉĂů ŝŶǀĞƐƟŐĂƚŽƌƐ ĮŶĚ ƚƌĞĂƚŵĞŶƚƐ ƋƵŝĐŬĞƌ͘ dŚ ǁŝůů ŽīĞƌ ůŽŶŐ ƚĞƌŵ ŇĞdžŝďůĞ ĮŶĂŶĐŝĂů ƐƵƉƉŽƌƚ ĨŽƌ ǁŽƌŬ ŝŶƚŽ ƚƌĞĂƚŵĞĞŶƚƐ ĂŶĚ ĐƵƌĞƐ ĂůůŽǁŝŶŐ ƐĐŝĞŶƟƐƚƐ ŵŽƌĞ ƟŵĞ ĨŽƌ ƌĞƐĞĂƌĐŚ ĂŶĚ ůĞƐƐ ƟŵĞ ƐĞĂƌƌĐŚŝŶŐ ĨŽƌ ĨƵŶĚŝŶŐ͘ Ɖ Žƌ ĐLJĐůĞ Ăůů /Ŷ ŽƌĚĞƌ ƚŽ ŬŝĐŬ ƐƚĂƌƚ ƚŚĞ ĨƵŶĚŝŶŐ͕ ǁĞ ŶĞĞĚ YOU ƚŽ ƌƵŶ͕ ǁĂůŬ͕ ũƵŵƉ ŝŶ ƚŚĞ ŶĂŵĞ ŽĨ ĨƵŶĚŝŶŐ ĞīĞĐƟǀĞ ƚƌĞĂƚŵĞŶƚƐ͘ Ě Žƌ ĨĂŵŝůLJ zŽƵƌ ƉůĞĚŐĞ ƚŽ ƚĂŬĞ ŽŶ Ă ĐŚĂůůĞŶŐĞ ;Žƌ ĨŽƌ LJŽƵ ƚŽ ŶŽŵŝŶĂƚĞ Ă ĨƌŝĞŶĚ Ŷƚ ĨŽƌ ŵĞŵďĞƌ͊Ϳ ǁŝůů ŚĞůƉ ďƌŝŶŐ ƵƐ ĐůŽƐĞƌ ƚŚĂŶ ĞǀĞƌ ƚŽ ĮŶĚŝŶŐ Ă ƚƌĞĂƚŵĞŶ ŝŶŚĞƌŝƚĞĚ ƌĞƟŶĂů ĚLJƐƚƌŽƉŚŝĞƐ͘ &ŝŶĚ ŽƵƚ ŵŽƌĞ ĂďŽƵƚ ƚŚĞƐĞ ĂŶĚ ŽƚŚĞƌ ĐŚĂůůĞŶŐĞƐ ŽŶ ŽƵƌ ǁĞďƐŝƚĞ͊
Challenge Y Yo ourself! dŚĞƌĞ ĂƌĞ Ěŝī ŝīĞƌĞŶƚ ůŽĐĂƟŽŶƐ ĂŶĚ ĚĂƚĞƐ ĂǀĂŝůĂďůůĞ ĨŽ ĨŽƌ ƚŚĞ ĨŽ ĨŽůůŽǁŝŶŐ ĐŚĂůůĞŶŐĞƐ͗ ddĂĂŶĚĞŵ ^ŬLJĚŝǀĞƐ ĞĂƌ 'ƌLJůůƐ ^ƵƌǀŝǀĂů ZĂĐĞƐ hůƚƌĂ ŚĂůůĞŶŐĞƐ ^ƉĂƌƚĂŶ ZĂĐĞƐ 'ĂƵŶƚůĞƚ 'ĂŵĞƐ
ϮϮͲϮϯͬϬϳͬϭϳ Ͳ dŚĞ >ŽŶĚŽŶ dƌŝĂƚŚůŽŶ
ϮϬͲϮϲͬϬϴͬϭϳ Ͳ dŚĞ tĞƐƚ ,ŝŐŚůĂŶĚ tĂLJ ;ĚĞƚĂŝůƐ ŽŶ ƉĂŐĞ ϮϮͿ
280 821334 or Join TTeeam RP today! Call 012 ǁǁǁ͘ƌƉĮŐŚƟŶŐďůŝŶĚŶĞƐƐ͘ŽƌŐ͘ƵŬ
ŚĂůůĞŶŐĞ dŽĚĂLJ͊ Run for Us! ϬϭͬϬϱͬϭϳ DŝůƚŽŶ <ĞLJŶĞƐ DĂƌĂƚŚŽŶͬ,ĂůĨ ϭϰͬϬϱͬϭϳ ^ƵƉĞƌŚĞƌŽ ZƵŶ ;ϱ< Žƌ ϭϬ<Ϳ ϮϳͲϮϴͬϬϱͬϭϳ ĚŝŶďƵƌŐŚ DĂƌĂƚŚŽŶ &ĞƐƟǀĂů ϬϵͬϬϳͬϭϳ >ĞĞĚƐ ϭϬ< ϮϰͬϬϵͬϭϳ ^ĐŽƫƐŚ ,ĂůĨ DĂƌĂƚŚŽŶͬϭϬ< ϬϳͲϬϴͬϭϬͬϭϳ ŽƵƌŶĞŵŽƵƚŚ DĂƌĂƚŚŽŶ &ĞƐƟǀĂů ϬϵͬϭϬͬϭϳ ZŽLJĂů WĂƌŬƐ ,ĂůĨ DĂƌĂƚŚŽŶ Ϭϱͬϭϭͬϭϳ EĞǁ zŽƌŬ DĂƌĂƚŚŽŶ ĞĐĞŵďĞƌ ϭϳ ^ĂŶƚĂ ZƵŶ WůƵƐ ŵĂŶLJ ŵŽƌĞ ŽŶ ŽƵƌ ǁĞďƐŝƚĞ͊
Organise Your Own Event! KƌŐĂŶŝƐĞ LJŽƵƌ ŽǁŶ ĨƵŶ ĞǀĞŶƚ͊ ,ĞƌĞ ĂƌĞ Ă ĨĞǁ ŝĚĞĂƐ ƚŽ ŐĞƚ LJŽƵ ƐƚĂƌƚĞĚ͗ ŌĞƌŶŽŽŶ ƚĞĂ ƵĐƟŽŶ ŽĨ ƉƌŽŵŝƐĞƐ ĂŬĞ ƐĂůĞƐ &ĂƐŚŝŽŶ ƐŚŽǁ &ŽŽƚďĂůů ŵĂƚĐŚ Gala dinner 'ŽůĨ ĚĂLJ Quiz dĂůĞŶƚ ƐŚŽǁ
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RESEARCH
New trial for x-linked RP rewrites the genetic code Last month researchers reported a new gene therapy clinical trial to treat X-linked RP had commenced. The trial is being run by Nightstarx Ltd, a biopharmaceutical spinout company of the University of Oxford developing gene therapies for inherited retinal diseases, and researchers from the University of Oxford. On the 16th of March 2017, a 29 year old British man became the first patient with X-linked RP to undergo gene therapy. The operation took place at the Oxford Eye Hospital, part of the Oxford University Hospitals NHS Foundation Trust. Gene therapy uses a virus to insert the correct copy of a defective gene into cells, and has shown promise for treating genetic causes of blindness. Unfortunately, the gene involved with retinitis pigmentosa, RPGR, is highly unstable, making gene therapy particularly challenging. The RPGR gene’s unusual genetic code has made it very difficult to work with in the laboratory. However, a research team led by Professor Robert MacLaren from 10
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the University of Oxford has reprogrammed the genetic code of RPGR to make it more stable, but in a way that does not affect its function. This has allowed the gene to be delivered reliably by a viral vector into retinal cells. The current trial is the first in the world to test a treatment for RP caused by RPGR. Robert MacLaren, Professor of Ophthalmology at the University of Oxford, who is leading the trial said, “The effect of RPGR-related disease on families with retinitis pigmentosa is devastating and we have spent many years working out how to develop this gene therapy. Changing the genetic code is always undertaken with great caution, but the new sequence we are using has proven to be highly effective in our laboratory studies. “The genetic code for all life on Earth is made up of four letters - G, T, A and C. In RPGR, however, half of the gene comprises only two letters - A and G. This makes the gene very unstable and prone to mutations, making it a lead cause of blindness in patients with retinitis pigmentosa. RPGR is vital for the
RESEARCH
light sensitive cells at the back of the eye.” The trial has started at the Oxford University Hospitals NHS Foundation Trust and is sponsored by Nightstar, a University of Oxford spin-out company. It is supported by the NIHR Biomedical Research Centre at the Oxford University Hospitals NHS Foundation Trust. Up to 30 patients will be enrolled. David Fellows, Chief Executive Officer of Nightstar remarked, “We are delighted to report the advancement of this exciting gene therapy program into patients. If successful, this gene therapy has the potential to transform the lives of many patients (and their families) around the world.”
thrilled this trial is taking place in Britain," commented Tina Houlihan, Chief Executive at RP Fighting Blindness. "Gene therapy research has been advancing at a fantastic rate over the past few years; we are moving into a new era of clinical trials and the potential for viable treatments has never been closer. The work Robert is undertaking is a milestone in RP research - we’re watching with great anticipation and will follow the progress of this trial closely.” Should you have any queries about this trial Nightstar can be contacted at: enquiries@nightstarx.com You can register your interest for participating in the NightstaRx XLinked Retinitis Pigmentosa: Interventional Study by visiting this site:
Dr Aniz Girach, Chief Medical Officer of Nightstar commented, “The current trial is an open-label dose-escalation study designed to https://www.nightstarx.com/ enrol at least 24 patients who will patients/research receive a single subretinal injection of the RPGR gene therapy. The primary goal of the study is to assess safety and tolerability of this gene therapy over a 12 month period.” “This is a hugely exciting step for our patient community and we are
www.rpfightingblindness.org.uk
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NEWS
Working Age Group Project We want to speak with working age people who are living with degenerative sight loss and understand their experiences of seeking work, maintaining careers, employment services and professional development. This means we’ll be travelling the This project is being led by RPFB, in country conducting face to face partnership with Thomas interviews, holding discussion and Pocklington Trust and RNIB, and is focus groups, distributing expected to last around a year. questionnaires and performing Anecdotal evidence suggests that other data-gathering exercises. working age people who have been diagnosed with degenerative sight We’ve hired an experienced social loss are concerned about how they researcher with a strong background in ophthalmology and will support themselves and their patient perspectives, and very families as their condition much look forward to analysing the progresses. As far as we know, conclusions he will draw from this there are currently no services aimed at supporting this particular work. issue. If you’re interested in getting The aim of this project is to inform involved with the project from a the development of useful, relevant patient perspective, please email our Communications & PR Manager and sustainable support services, Thomas O’Neill on with a view to ‘future-proofing’ careers for when visual impairment tom@rpfightingblindness.org.uk. Alternatively you can call 01280 becomes a reality. We Want to ensure working age people who are 821334. living with degenerative sight loss We’ll keep you updated as to our have choices about their future progress, and will be publishing our working lives, know in advance results at the conclusion of the their options and have support to project. fulfil future ambitions. We’re excited to announce we’re launching a social research project looking at providing future employment services to working age people who are living with degenerative sight loss as a result of an inherited retinal dystrophy.
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INFORMATION
RNC Have a Go Activity Weekend The Royal National College for the Blind has asked us to help share information about their upcoming Have a Go Activity Weekend on Saturday 21 and Sunday 22 October 2017 in Hereford. The weekend is free for young people aged 13 to 17 with a visual impairment. Activities will include: Sports such as Goalball and VI football Music, media and performing arts Outdoor activity centre Bowling and lots more Free accommodation is available for an accompanying adult to stay over. Whilst the young people are involved in the activities over the weekend you will have a personalised tour of the campus and have the opportunity to ask any questions you may have to our registry and learning teams.
The RNC Have a Go Activity Weekends are popular, so if you’re interested in attending, register your place now! For more information and to request a booking form, call 01432 376 621 or email info@rnc.ac.uk
“I was completely impressed by the whole set up, how enabling it was for my children. I saw them as they should be; confident and capable young people.” Dawn, mother from Sheffield. www.rpfightingblindness.org.uk
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EVENTS
Families Conference In the last issue of Look Forward, we told you about our Families Conference which is being held from the 5th to the 7th of May. We still have a few places available so if you’re interested in attending, please do register your place! It’s free to attend and is being held at the Milton Keynes Hilton Hotel.
young children, and older children will have the opportunity to join in sporting activities, and / or go on a day trip. Our objective is that by the end of this weekend, we will have an insight into what you, as parents and families, feel are the most important areas and what will benefit you. The feedback from this weekend will drive our priorities and outcomes for the future.
The programme of speakers and the full list of activities for the weekend is being finalised, but below is a brief overview of some of We have chosen a central location, the content you may expect to find with good road and rail links and, to included in the weekend. ensure that no one is excluded from attending due to cost, we have Plenary sessions: secured funding to cover all Research updates expenditure. Genetic management / guidance Places are limited to 40 families Family experiences and we hope this event will be relaxed, informative and fun for all Life beyond the clinic who attend! Breakout sessions: For further information you can Leisure activities / sport visit our website www.rpfightingblindness.org.uk. To Education register, please call the office on Employment support and access to 01280 821334 or email work info@rpfightingblindness.org.uk. Places are strictly limited, so Empowerment and wellbeing please do contact us soon if you’d We will be providing crèche like to attend. facilities during the day for very 14
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RESEARCH
Your contribution to pioneering research - an update The Gene Team
With support from you, the group has discovered five new disease Many of you have donated towards causing genes, found the genetic the work of Professor Robin Ali and basis for disease in more than 230 his ‘Gene Team’ at UCL and cases and published more than 13 Moorfields Eye Hospital. Your articles. The consortium has grown support has enabled the team to from four sites to seven, and now explore the viability of gene therapy has a presence in London, Leeds, as a treatment for RP and related Manchester, Oxford, Bristol, Cardiff conditions, and build a pipeline of and Southampton. clinical trials for conditions such as LCA, achromatopsia and X-Linked For more detailed updates on both RP3. the Gene Team and the RP Genome Project please visit our website: Going forward, the team intends to www.rpfightingblindness.org.uk continue developing a pipeline for clinical trials and investigate the viability of gene therapy as a treatment for conditions including Usher syndrome, Stargardt disease, LCA type 13, Batten disease and Bardet-Biedl syndrome. The RP Genome Project The RP Genome Project aims to discover new causative genes for RP and related conditions, develop a database of patients in readiness for clinical trials, find out how often genetic faults occur and attract more research funding for inherited retinal dystrophy research.
www.rpfightingblindness.org.uk
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ARTICLE
Help us transform lives - remember RP Fighting Blindness in your will Gifts in wills are hugely important to RP Fighting Blindness. They drive pioneering research and fund advice and support for hundreds of people every year. Those supporters who choose to remember us in their wills come from all walks of life, but together they share a vision of the future where no-one diagnosed with RP fears the loss of their sight. One man who wanted to create a better future for people with RP was Bill Arthur from Paisley. Bill Arthur, RPFB Legator Bill was diagnosed in his mid-twenties and it was difficult to learn, at such a young age, that he was facing the prospect of inevitable sight loss and could no longer drive. He tried to approach the news with pragmatism, moving to a house near a bus route to ensure that he could still get to work at large scale engineering firm Doosan Babcock. At 6’2” Bill was a tall and imposing man, but very mild mannered. His 16
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brother John remembers him with great affection: “He was such a gentle person and very honest. He was quiet, some might say introverted, but dedicated to his family and so caring towards his nieces and nephews.” A naturally charitable man, Bill began supporting RP Fighting Blindness in 1998, becoming a regular giver and member. Although careful with money, he enjoyed donating to causes close to his heart where he could see that his contribution would be well spent. He was also determined that his carefully cultivated savings be used to help others facing inherited sight loss in the future, and chose to include a significant gift to RP Fighting Blindness in his will. Bill passed away in 2016. His decision to remember RP Fighting Blindness in his will is one that will achieve his sole objective - to help others. His gift will be used to fund vital research in the coming year, furthering our understanding of RP and related conditions. It will help us provide vital support to children, young people and adults facing a visual impairment. His memory will
ARTICLE
live on in more ways than one, as in early 2017 his niece gave birth to a son. His middle name is William.
understood, but current data suggests that a reduced ability to deal with oxidative stress and DNA damage may be the issue. This If you have been inspired by Bill's project will explore whether this is story please contact Deborah Laing the underlying cause, and will also on 01280 821 334 or email test whether drugs which target deborah@rpfightingblindness.org. DNA repair pathways and / or uk for a confidential discussion antioxidant therapies represent a about gifts in wills. suitable treatment option. Alternatively, visit our website We are excited to see how Dr Hurd’s www.rpfightingblindness.org.uk investigations progress, and are for more information. expecting the first interim report from his team in September. We want to thank everyone who 40th Anniversary Appeal Update contributed to the Anniversary Our Anniversary Appeal generated Appeal. Your donations are funding £125,000, which is an incredible an exciting piece of research which achievement. Our intention was to will enhance our understanding of raise enough money to fund at least RP and the part that oxidative one additional research project, stress and DNA damage play in and we're delighted that our retinal degeneration. fantastic supporters have enabled us to achieve that objective. The new project, which began in November, is led by Dr Toby Hurd and takes place at Western General Hospital in Edinburgh. It aims to explore the mutation of the RP2 gene, which is one cause of retinitis pigmentosa. The mechanism by which this happens is not fully www.rpfightingblindness.org.uk
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INTERVIEW
Interview with Dan Powell, Paralympian, Entrepreneur and RPFB Challenge Event Champion When were you first diagnosed with cone-rod dystrophy? I was first diagnosed with cone-rod dystrophy when I was born. It’s a hereditary disease which my dad, my grandma and my brother have. How do you manage on a day-today basis? Day to day things can be pretty interesting! Both me and my girlfriend have got a visual impairment and that can sometimes be quite amusing but other times quite a struggle. We rely a lot on technology on our phones, using the camera to zoom in and using speech software.
for trials for the London 2012 Paralympics, tried out with my brother and we both got picked for the team, it was an amazing experience. In 2013 I retired from Judo because I was missing home, so I moved back home to Liverpool where I started doing Athletics. I really enjoyed running and the competitive and training elements of it and I’m now competing regularly. You’ve also set up your own business! Can you tell us about that?
My business is called Ability Training and there are two sides of it. One side of it is inclusive personal training and sports massage, and the other side of things is the Ability Visual How did you first get into sport? Awareness and Fitness Workshop. My dad competed in three The workshop teaches fitness Paralympic Games as a Judo player, trainers, fitness class instructors, so he started coaching me and my personal trainers, and sports brother when we were age nine. coaches how to work more Then when I was 17 I saw an advert efficiently and effectively with visually impaired people. 18
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INTERVIEW
RP Fighting Blindness because you are helping fund amazing research and helping to find the inroads to finding a cure or finding any sort of breakthrough. I think the There are no limitations. If you want challenges that are available to go into sport, or want to follow a through RPFB are amazing – I took career path there’s always a way part in a Tough Mudder challenge a around it, always people around couple of years ago for RP Fighting who are educated and aware Blindness and that was so much enough to help facilitate their fun! Get on board! dreams. If you want to find out more about Why do you think fundraising for RP Ability Training, visit Fighting Blindness is important? www.facebook.com/abilitytraining Fundraising’s really important for What would you say to a young person with a visual impairment who feels they have limited opportunities?
Become a Superhero at the
14th May 2017 - Regents Park, London - 25 places available - 5km or 10km distances - Free superhero costume or bring your own! - Mini superhero run for under 8’s
Ͳ άϮϱ ƌĞŐŝƐƚƌĂƟŽŶ ĨĞĞ ĂŶĚ a minimum sponsorship amount of only £100! - Superhero medal when LJŽƵ ĮŶŝƐŚ͊
Sign up today and join our team of heroes! Contact Emily on 01280 821334 or ĞŵŝůLJΛƌƉĮŐŚƟŶŐďůŝŶĚŶĞƐƐ͘ŽƌŐ͘ƵŬ ĨŽƌ ŵŽƌĞ ŝŶĨŽƌŵĂƟŽŶ
www.rpfightingblindness.org.uk
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RESEARCH
Zebrafish retinal research reveals potential for future treatments of adult stem cell, called Müller glia which in fish play a key role in regeneration. When regeneration is triggered in zebrafish, the Müller glia begin proliferating and then differentiate into replacements for the damaged nerve cells. Müller glia cells are also present in the retinas of humans and other mammals, but don't regenerate. Graduate student Mahesh Rao perceived the idea that GABA, best known for its role of calming nervous activity by inhibiting nerve Biologist Professor James Patton, transmission in the brain, might be of Vanderbilt University, said a drop the trigger for retinal regeneration. in GABA is the "trigger for regeneration." He added: "If we are Experiments with zebrafish then correct, then it might be possible to found high concentrations of GABA stimulate human retinas to repair in the retina keep the Müller glia themselves by treating them with a inactive. GABA inhibitor." They begin altering and Research published in Stem Cell proliferating when GABA Reports has identified the signal concentrations drop. Prof Patton that triggers the repair process and said: "Last month a paper was raises the possibility damaged published in the journal Cell that human retinas can also be induced reports GABA levels play a central to do the same thing. Prof Patton role in the regeneration of pancreas said: "The prevailing belief has cells. We now have three instances been the regeneration process in where GABA is involved in fish retinas is triggered by secreted regeneration - the hippocampus, growth factors, but our results the pancreas and the retina - so indicate the neurotransmitter GABA this could be an important, might initiate the process instead.” previously unknown role for the neurotransmitter." The retina contains a special type 21 Scientists have identified a brain chemical in zebrafish that could hold the key to how some fish are able to regrow damaged retinas, which could be translated into human treatments. Levels of this chemical, gamma aminobutyric acid (GABA) which is a neurotransmitter vital for sight, drop when the unique self-repair process kicks in - so blocking it could lead to new treatments for conditions like RP and AMD.
NEWS
West Highland Way 2017 20th-26th August :ŽŝŶ ƚŚŝƐ LJĞĂƌ͛Ɛ ZW &ŝŐŚƟŶŐ ůŝŶĚŶĞƐƐ ƚƌĞŬ ĂŶĚ ĞdžƉĞƌŝĞŶĐĞ ƚŚĞ ĂĚǀĞŶƚƵƌĞ ŽĨ Ă ůŝĨĞƟŵĞ͕ ŵĂŬĞ ŶĞǁ ĨƌŝĞŶĚƐ ĂŶĚ ƌĂŝƐĞ ŵŽŶĞLJ ĨŽƌ ŐƌŽƵŶĚͲďƌĞĂŬŝŶŐ ƌĞƐĞĂƌĐŚ͊ dŚĞ tĞƐƚ ,ŝŐŚůĂŶĚ tĂLJ ŝƐ ŽŶĞ ŽĨ ƌŝƚĂŝŶ͛Ɛ ĮŶĞƐƚ ĂŶĚ ďĞƐƚ ŬŶŽǁŶ ůŽŶŐ ĚŝƐƚĂŶĐĞ ƚƌĂŝůƐ͕ ƌƵŶŶŝŶŐ ϭϱϰŬŵ ;ϵϲ ŵŝůĞƐͿ ĨƌŽŵ DŝůŶŐĂǀŝĞ͕ ŽŶ ƚŚĞ ŽƵƚƐŬŝƌƚƐ ŽĨ 'ůĂƐŐŽǁ ƚŽ &Žƌƚ tŝůůŝĂŵ Ăƚ ƚŚĞ ĨŽŽƚ ŽĨ ĞŶ EĞǀŝƐ͘ dŚĞ ƌŽƵƚĞ ŽīĞƌƐ Ă ĨĂďƵůŽƵƐ ĞdžƉĞƌŝĞŶĐĞ ŽĨ ƚŚĞ ^ĐŽƫƐŚ ,ŝŐŚůĂŶĚƐ͘ sŝƐŝƚ ǁǁǁ͘ƌƉĮŐŚƟŶŐďůŝŶĚŶĞƐƐ͘ŽƌŐ͘ƵŬ ƚŽ ĮŶĚ ŽƵƚ ŵŽƌĞ͘
Hair, makeup and skincare workshop for people with sight loss On 18th March, a fantastic hair, makeup and skincare workshop was put on by RP Fighting Blindness Ambassador Bhavini Makwana. The event brought together 30 visually impaired people who enjoyed workshops on different elements, followed by a pamper session in the afternoon where
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many people had makeovers. An attendee commented, “It was fun, as well as being very informative. It’s a great idea to provide activities aimed at empowering visually impaired women.” A big thank you to Bhavini for organising such a brilliant event!
Yes, I want to help fund ground-breaking research WůĞĂƐĞ ŵĂŬĞ LJŽƵƌ ƐĞůĞĐƟŽŶƐ ďĞůŽǁ Žƌ͕ ŝĨ LJŽƵ ƉƌĞĨĞƌ͕ ĐĂůů ϬϭϮϴϬ ϴϮϭϯϯϰ Žƌ ĚŽŶĂƚĞ online at ǁǁǁ͘ƌƉĮŐŚƟŶŐďůŝŶĚŶĞƐƐ͘ŽƌŐ͘ƵŬ. Thank you. I enclose my ĐŚĞƋƵĞ ĨŽƌ ά ͘͘͘͘͘͘͘͘͘͘͘͘͘͘ ƉĂLJĂďůĞ ƚŽ ͞ZW &ŝŐŚƟŶŐ ůŝŶĚŶĞƐƐ͘͟ / ǁŽƵůĚ ůŝŬĞ ƚŽ ŵĂŬĞ ŵLJ ĚŽŶĂƟŽŶ ŽĨ ά͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘ ďLJ ĚĞďŝƚͬĐƌĞĚŝƚ ĐĂƌĚ. ĂƌĚ ,ŽůĚĞƌ EĂŵĞ͗ ͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘͘ ĂƌĚ dLJƉĞ͗ Mastercard
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Upcoming Events Calendar
April Look Forward published 23rd - London Marathon 25th - Sight Village Edinburgh 26th - Sight Village Glasgow
May 1st - Milton Keynes Marathon / Half Marathon 5th - 7th - Families Conference 14th - Superhero Run London 14th - Leeds Half Marathon 27th - 28th - Edinburgh Marathon Festival
June 5th - Liverpool Patient Information Day 24th - RP Fighting Blindness Annual Conference 24th - Gauntlet Games London
July 9th - Leeds 10K 18th - 19th - Sight Village Birmingham 22nd - 23rd - London Triathlon 28th - 30th - Helpline Training Weekend
August Look Forward published 5th - Bear Grylls Survival Race Cambridge 20th - 26th West Highland Way Trek TBC - Patient Information Day Hereford
September 5th - Dr Toby Hurd Labs Event 9th - Bear Grylls Survival Race Manchester 10th - Great North Run 16th - Gauntlet Games Manchester 24th - Scottish Half Marathon / 10K 24th - Disneyland Paris Half Marathon 30th - Bear Grylls Survival Race London
October 7th - 8th - Bournemouth Marathon Festival 8th - Royal Parks Half Marathon 12th - World Sight Day Moorfields TBC - Patient Information Day Belfast
November 5th - Zombie Evacuation Race 5th - New York Marathon 7th - 8th Sight Village London
December Look Forward published TBC - Santa Run
If you would like further details on any of our events, please call 01280 821334 or email info@rpfightingblindness.org.uk. Please note, registration for some events may not be live yet. We will be able to advise when you get in contact.