Look Forward Issue 160 November 2016
Registered Charity No.1153851
Inside Christmas Cards Page 3 RNIB How I See Campaign Page 4 Membership Reminder Page 10 40th Anniversary Update Page 12
A successful and productive year draws to a close
Gift Aid Page 13
2016 has been an exciting year, with our 40th Anniversary activities bringing together many people across the UK. As well as our special annual conference, which welcomed over 170 delegates, we saw many fundraisers, dinners and gatherings to mark this important milestone in our history. We are delighted so many people enthusiastically joined in with helping us make 2016 a year to remember. We now look to 2017, and you can learn about some of what we have planned in this issue of Look Forward, and by checking our website and various communications in the New Year.
RP Genome Project Update Page 15
Cane Enable Campaign Page 14
New RPFB Ambassador announced Page 16 RPFB Families Conference Page 18 Meet the Team Page 20
NEWS
Letter from the Chief Executive Tina Houlihan Welcome to the latest edition of Look Forward. To say it has been a busy and productive year is an understatement - making for a very full and interesting issue; please enjoy! Our incredibly popular Patient Information Days are going from strength to strength and continue to move from region to region helping to inform and enthuse attendees about the most up-todate research, services and advancements. The upcoming 2017 national schedule will be announced soon - watch our various communications for updates, and please come along to one near you and learn more. Recently, you may have heard on the radio or seen on social media our highly successful Cane Enable campaign, designed to educate about the benefits of cane usage RP Fighting Blindness funds medical research into inherited retinal dystrophies and offers a range of information and support services to patients and their families.
when you are partially sighted please read more about it on page 14 or visit our website to see the accompanying videos. Collaborating with the RNIB and Thomas Pocklington Trust we are undertaking some research into the challenges around employment with a view to increasing and improving support, services and information. Please do let us know if you would like to be involved. Please do feel free to email me at chiefexecutive@rpfightingblindness.org.uk should you wish to get in touch with me for any reason. 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)
FUNDRAISING
RPFB Christmas Cards It’s your last chance to purchase our RP Fighting Blindness charity Christmas cards! At just £2.50 for a pack of six with envelopes (plus postage), they’re great value. Skilled artist Tina Wray, who has RP herself and just five per cent vision remaining, has painted these two beautiful images and donated them to the charity. In addition, the printing of these high quality A5 cards has been donated free of charge, which means every penny of the sale value of the cards goes to support the work of RP Fighting Blindness. Each card contains a simple ‘Season’s Greetings’ message. You are able to purchase them using your credit or debit card by calling the office on 01280 821334. These cards are always popular, so make sure you get your order in soon! 3
AWARENESS
How I See: An RNIB film project With a group of people who have low vision, RNIB has developed a film called How I See. The film aims to explain simply to the general public that just because someone is registered blind or partially sighted - and maybe even uses a cane or guide dog - it doesn’t mean they can’t see anything. It also strives to highlight that just because someone isn't using a cane or a guide dog it doesn't mean they're fully sighted. 93 per cent of people registered blind or partially sighted can see something, which often comes as a surprise to many fully sighted people. The How I see film explains just that - how a group of visually impaired people see the world around them. The group of people that liased with the RNIB for the film was led by Annalisa D’Innella who has RP herself.
Rachael Stevens RP Fighting Blindness Trustee children are at nursery I leave my pram there and use my white cane on the way back. So I look like I've suddenly morphed into a visually impaired person and people find that quite confusing!”
We encourage you to share the film with friends and family as it will Along with four other visually help those who have no experience impaired people, talking about their of sight loss understand more experiences and their sight loss, RP about our community. Fighting Blindness trustee Rachael The film is being shared online and Stevens features in the film; across social media with the “When I drop my children at school hashtag #HowISee and is available I use the double buggy. I look like to view at any other sighted mother. Once the http://www.rnib.org.uk/how-i-see 4
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RESEARCH
Researchers find way to boost CRISPRCas9 efficiency by up to five times Researchers have found a simple way to boost the efficiency of the groundbreaking gene-editing technology CRISPR-Cas9 by up to five times. CRISPR-Cas9 is a technique for knocking out genes in human cell lines to discover what the genes do, but the efficiency with which it disables genes can vary immensely. The new technique could make it easier to create and study knockout cell lines and, potentially, disable a mutant gene as a form of human therapy. CRISPR has application for developing a treatment for a range of condtions, including RP, as previously reported. In the study, published in the journal Nature Communications, the researchers described that the process can be made more efficient by introducing into the cell, along with the CRISPR-Cas9 protein, short pieces of DNA that do not match any DNA sequences in the human genome. The short pieces of DNA, called oligonucleotides, seem to interfere with the DNA repair mechanisms in the cell to boost the editing performance of even mediocre CRISPR-Cas9s by up to five times. Once Cas9 cuts, the cell exactly replaces the cut DNA, which Cas9
cuts again, in an endless cycle of cut and repair until the repair enzymes make a mistake and the gene ends up dysfunctional. It is thought the oligonucleotides decrease the fidelity of the repair process, or make the cell switch to a more error-prone repair that allows Cas9 to more readily break the gene. With higher efficiency, researchers will have better success at creating the knockouts they want, and then using those knockout cell lines to explore the function of a gene or a group of genes. Because most long-lived cell lines are derived from cancer cells these cell lines typically have more than the normal two copies of each gene. This can make it difficult to knock out all copies at once, and higher efficiency greatly increases the chance of success. High efficiency also is essential when knocking out genes to correct hereditary mutations in humans. Physicians have speculated about knocking out genes that make people susceptible to infectious diseases, such as AIDS, or prone to autoimmune, inflammatory or neurodegenerative disorders. However, it remains to be seen whether the approach described could be used in a therapeutic context.
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RESEARCH
Early data demonstrates stem cell transplants in humans with RP are safe The first results of an in-human stem cell transplant to treat retinitis pigmentosa were released by regenerative medicine company jCyte. The transplants are safe and well tolerated six to 12 months after injection of the immature, undifferentiated retinal cells into one eye, the company said. The next step, a phase IIB clinical trial, could get underway as soon as next year, co-founder of jCyte, Dr Henry Klassen, told Optometry Today. A number of patients received the stem cells, which were allogeneic or derived from an unrelated donor, in the trial funded by the California Institute for Regenerative Medicine. The research was conducted at the University of California, Irvine and the Los Angeles-based clinic, Retina Vitreous Associates. Dr Klassen highlighted that: “To enrol in this initial safety trial, the patients had to be severely impacted visually and at a relatively late stage of disease progression.”
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The first patients to receive the transplants had very low vision left - some were only able to see hand motions - though later patients with better vision were then also offered the treatment, once initial safety data first became available, he said. Dr Klassen, said the initial results are pleasing, adding: “RP is an incurable retinal disease that first impacts people’s night vision and then progressively robs them of sight altogether. This is an important milestone in our effort to treat these patients.” The phase IIB trial will look at how effective the transplants are, he said. “The goal will be to show statistically significant benefits for the treatment, versus the control, group in terms of specific, clinically relevant visual functions. “The timeline is yet to be determined, but [the trial] could get underway during the next calendar year, 2017,” Dr Klassen concluded.
FUNDRAISING
Fundraising Gala Dinner and Auction On Friday 23rd September, over 160 people attended a special celebratory gala dinner at Skinner’s Hall in London. Organised by RP Fighting Blindness Trustee Roger Backhouse, the event was held to mark the 40th anniversary of the charity, as well as the phenomenal success of the 2016 London Marathon runners.
sporting fixtures, a flight in a Piper Archer aircraft and many more! After the delicious dinner there was also a live auction with a star lot of a week for up to six people in Antigua. Thanks must go to all who donated the fabulous prizes!
The event was brilliant from start to finish, with everyone having a great time while raising over £50,000 for the charity. Thanks go to everyone The dinner kicked off with a drinks who attended, bid on the auction reception on the roof terrace, where prizes and joined in with the guests also had the opportunity to games, and of course special buy raffle tickets to win a fantastic thanks must go to Roger for £5,000 voucher for Boodles organising it! jewellery; we would like to thank Boodles very much for donating this amazing prize! Once guests were seated in the Great Hall, there were speeches from Roger, researcher Professor Robin Ali and RPFB’s chairman Don Grocott, followed by a game of Heads and Tails. Throughout the evening, guests were able to bid on a silent auction using iPads; prizes included a week in a cottage in Cornwall, a wine tasting experience, tickets to
Don Grocott, Chair of the Board of Trustees at RP Fighting Blindness, addresses guests at the Gala Dinner
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FUNDRAISING
Bath Half Marathon 2017 Join Team RP for the Vitality Bath Half Marathon on 12th March 2017! The Vitality Bath Half Marathon is one of the longest established and most popular city centre road events in the UK. The course itself is fast and flat making it suitable for all abilities for beginners whose key objective is simply to complete the course, to more regular long-distance event runners looking to beat their personal best time. It covers a two lap 13.1 mile traffic-free course straddling both sides of the River Avon. The race starts and finishes in Great Pulteney Street, in the heart of the Georgian splendour of the city. We have 10 places up for grabs in this fantastic event, so get in touch today to join the team! For more information or to register your interest please call Emily Purchase on 01280 821334 or email fundraising@rpfightingblindness.org.uk
Corporate partnership Working with corporate supporters is very important to RP Fighting Blindness, and we understand your company is unique. When you partner with RP Fighting Blindness, we really want to get to know you - your company, employees, business and objectives. From simple, easily implemented fundraising ideas to a fully-fledged Corporate Social Responsibility programme, your support will make a huge difference. Opportunities include: Charity of the year
Payroll Giving
Employee Giving
Sponsorship
Corporate Team Challenges To discuss a corporate partnership with us, please contact RPFB’s fundraising team on 01280 821334 or email fundraising@rpfightingblindness.org.uk 8
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Save the Date
Sportsman’s Dinner 6th April 2017 Ŷ ĞǀĞŶŝŶŐ ǁŝƚŚ ƐƉŽƌƟŶŐ ĐĞůĞďƌŝƟĞƐ Ăƚ ƚŚĞ tĂůĚŽƌĨ ,ŝůƚŽŶ ŝŶ >ŽŶĚŽŶ͘
Celebrity guests to be announced! dŽ ƌĞŐŝƐƚĞƌ LJŽƵƌ ŝŶƚĞƌĞƐƚ ŝŶ ƚŚĞ ĞǀĞŶƚ͕ ĞŵĂŝů ĨƵŶĚƌĂŝƐŝŶŐΛƌƉĮŐŚƟŶŐďůŝŶĚŶĞƐƐ͘ŽƌŐ͘ƵŬ Žƌ ŐŝǀĞ ƵƐ Ă ĐĂůů ŽŶ ϬϭϮϴϬ ϴϮϭϯϯϰ͘
INFORMATION
RP Fighting Blindness Membership We’d like to say a big thank you to everyone who plans to continue supporting RP Fighting Blindness in 2017 as a member. The membership subscriptions are a vital addition to our annual revenues and help us across many different areas of our work. For historic reasons, many of our members annual fees are due in January. If this applies to you and you have not yet submitted payment, please can we ask you to send your payment with the form below or call the office and pay
over the telephone using a credit or debit card. Any cheques should be made payable to RP Fighting Blindness for £24. Of course, if you pay by Direct Debit you do not need to take any action.You can transfer to Direct Debit by calling the office on 01280 821334. If you are not already a member but would like to be you can join by calling the office or visiting our website and searching for “membership”. Thank you for your support.
RP Fighting Blindness Membership Form
Name: Address:
Contact Telephone No.: Please make cheques payable to RP Fighting Blindness and return to: RP Fighting Blindness PO Box 350 Buckingham MK18 1GZ 10
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INFORMATION
Collection cans and fundraising materials Do you have any RP Fighting Blindness collection cans at home that you’re no longer using? Maybe you have other materials left over from fundraisers or events you’ve held in the past? If so, we’d like to hear from you!
community supporters, the more productive they’ll be! Please contact Fundraising Assistant Emily Purchase on emily@rpfightingblindness.org.uk or call 01280 821334 if you have any materials you wish to return. You can also speak to the fundraising team about the ways we can help support you if you decide to run your own event.
Every year, RP Fighting Blindness sends out boxes of collecting cans, collecting buckets, banners and other resources to fundraisers across the country, to help them promote and fundraise at their events. All these things cost the organisation money to produce while we do our very best to keep track of such resources, many items get shared around Local Groups or are left with schools or community centres for future fundraisers and so can’t be sent out to other people organising events in the meantime. That’s why we’re asking if you have any roller or vinyl banners, collecting cans or buckets, or anything else similar, to let us know so we can arrange to have items collected and delivered back to us. 2017 is set to be a busy year for the events team, and the more we have to help our fundraisers and
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FUNDRAISING
40th Anniversary Activity Update This year has proved an exciting one for the organisation; as you will be aware, 2016 marked the 40th anniversary of the founding of the charity and we commemorated this with a special 40th Anniversary Appeal, and many of our members up and down the country supported us by running events and fundraisers.
alternatively you can pay in direct by visiting your local branch of Lloyds Bank and giving them our details. (Sort code: 30-18-83, account number: 11368368; please mark the reference on your paying in slip Appeal 40)
We’d like to thank everyone who has helped make our anniversary year such a success. Our special annual We asked our supporters to help us conference in June welcomed many old faces from the charity’s past, raise £150,000 in our anniversary including members, researchers year, to allow us to fund an extra and staff, and we’ve seen some scientific research project. So far, great fundraisers taking place. with your help, we’ve raised We’re very proud of our four £122,000 of our target. decades of discovery, and we You will remember we sent you one couldn’t have done it without the of our special 40th Anniversary pop hard work and dedication of so up collection boxes, for you to save many of our volunteers and loose change in throughout the fundraisers. year; we’re asking everyone who used theirs to send us the total to help us reach our goal of £150,000! You can send a cheque for the amount you’ve raised to: RP Fighting Blindness, PO Box 350 MK18 1GZ Or you can pay by credit or debit card by calling 01280 821334, or
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INFORMATION
Gift Aid You may have been contacted by RP Fighting Blindness recently regarding your Gift Aid status; this is because we want to ensure we have the most up to date information about those who generously donate money to our cause.
If you haven’t received a letter from us recently regarding your Gift Aid status, it means your RPFB record is up to date. If you’ve recently moved however, or think you may no longer be eligible to Gift Aid your donations, please let us know.
Should you have any queries about Gift Aid allows charities to claim your current Gift Aid status, please the basic rate tax on every pound don’t hesitate to get in contact with donated. This means if you donated us; you can email our Supporter £100 to RPFB you could effectively Services & Donor Management be giving us £125; giving under the Officer Vanessa Davis on vanessa@rpfightingblindness.org.uk Gift Aid scheme means that so much more money can be raised at or call 01280 821334. no extra cost to our donors or the We thank you for your support. The charity. generosity and dedication of our It really does make a big difference many donors across the UK and beyond is vital to our work. and last year alone we raised an extra £74,000 thanks to our supporters donating via the Gift Aid scheme. UK tax payers are eligible to Gift Aid their donations and all it requires is you informing us that you would like to do so. A written declaration isn’t necessary; you can inform us over the phone if that’s more convenient, and we will confirm your updated status by post.
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CAMPAIGNS
Cane Enable Campaign RP Fighting Blindness has teamed up with the Thomas Pocklington Trust to encourage people to use their canes by highlighting what they enable.
and lead active and independent lives.
Through a series of online videos, radio clips and patient outreach, we hope to demonstrate how canes can help. The videos and radio clips depict ordinary cane users as they navigate familiar situations; catching a bus, grabbing a bite to eat in a café and dropping the kids off at school. You can watch the videos on our website; simply click the Cane Enable logo on our homepage and you’ll be directed to where they’re hosted.
other organisations which can assist further.
We're excited to bring the topic of cane use to the surface of our community; use the #CaneEnable Whether you have a cane but would hashtag on Twitter or Facebook, and help us share this campaign rather not use it, or have been considering using a cane, but aren't with those who could benefit. sure if you're ready to take the next If you'd like to discuss cane use or step, the Cane Enable Campaign training, or aren't sure if canes are has been launched to educate and for you, call the RP Helpline; our inform visually impaired people volunteers will be happy to discuss about the benefits of cane use. it with you, and can signpost to
Using a white cane to get around can make a huge difference to the day-to-day lives of people with sight loss and the series of videos we've produced in partnership with TPT show how a cane can help people with sight loss to get around 14
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You can build your confidence and improve your cane skills for independent and safe travel by taking Orientation and Mobility training. To obtain training, you should contact your local sensory team. RNIB can also help you receive training from your local social services department - call their helpline on 0303 123 9999 or email helpline@rnib.org.uk for further information about this.
RESEARCH
The RP Genome Project - two years in By Stuart Ingram, Project Manager As many of you will be aware, the RP Genome project is a pioneering approach to research into inherited eye disease, managed by the UK Inherited Retinal Dystrophy Consortium, and funded by RP Fighting Blindness. The project has been active since November 2014 and is the largest research project that RPFB has ever funded by some margin.
around a dozen academic papers published, and perhaps most importantly access to this type of testing where previously there was none.
The project is now in an exciting phase; several software developments are in progress from our bioinformatics team, in order to make analysis and interpretation of the huge amount of genomic data faster and more accurate, and we The project is now two thirds of the expect these, along with our work in way through the initial funding developing phenotypic terms, to period. In this time we have continue to benefit the research employed research staff, set up and community at large in the UK and increased the size of our EU. consortium to eight sites, and We are currently exploring several created, tested and put to use routes for continuation funding for investigative pipelines for whole exome and genome sequencing for the project, and of course we patients with RP, for which a cause continue to make regular new finds in potential genetic causes for RP, has not been found via NHS and hold regular scientific and diagnostic testing. advisory meetings with patient Our direct outputs include more involvement, in order to steer the than 200 cases solved, over 100 right course. participants recruited to the study, For further information about the two new disease causing genes project, please contact discovered, a number of new stuart.ingram@cmft.nhs.uk ‘candidate’ genes and mutations needing further investigation, www.rpfightingblindness.org.uk
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ARTICLE
RPFB announces new charity Ambassador RP Fighting Blindness is pleased to announce long-time supporter of our organisation Bhavini Makwana has agreed to act as an Ambassador for the charity.
“I’m delighted to have been invited to be an Ambassador for RP Fighting Blindness,” commented Bhavini. “I’ve been involved in several different aspects of the organisation, from Many of you will know about Bhavini’s support services such as the RP Helpline, fundraising through previous volunteering for us; most notably she has undertaken extensive challenges and raising awareness through events, and I feel confident I work to raise awareness of the can really make a difference in my condition amongst the Asian new role supporting the charity; I look community and also founded ‘Social forward to helping and assisting its Eyes’, a support group with a difference which gives people with RP members in any way that I can.” an opportunity to socialise and have We’re sure everyone will join us in fun together. In addition, she regularly wishing Bhavini the very best of luck staffs the RP Fighting Blindness in her new role, and we’d like to thank Helpline and organises fundraising her for her dedication and hard work events. on our behalf. Earlier this year Bhavini was given a Points of Light Award, from the Prime Minister. Points of Light Awards are outstanding individual volunteers; people who are making a notable change in their community. Bhavini was awarded The Lynda Cantor Founder Award for Contribution to the Future of the Charity at the RPFB annual conference in 2015, and is a familiar face at our events. We’re delighted she has agreed to come on board as an Ambassador, raising awareness of inherited retinal dystrophies and spreading the word about our work.
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Bhavini Makwana receives the Points of Light Award from Samantha Cameron for her charity work, earlier this year.
FUNDRAISING
Great North Run Success!
Family and friends Cycle Challenge
Matt Lakin, Great North Run participant
Left to right: Milo Dwyer, Matthew Dwyer, Steve Honeybourne, Kevin Thorogood, Craig Penfold, and Ted Dwyer
A big thank you to RPFB supporters Matt Lakin, Liz Pimperton and John Murphy who all ran the Great North Run in September, collectively raising over £2,000 for us! The famous course starts in Newcastle and stretches 13.1 miles to the finish at South Shields, taking in iconic sights such as the Tyne Bridge on its way.
Three generations of the Dwyer family, Grandpa Ted, son Matthew and grandson Milo (aged 14) plus three friends recently completed the Randonnee 100km round the Isle of Wight cycle ride to raise money for RP Fighting Blindness. Matthew, who has RP, and Milo completed the ride on a tandem. The team completed the ride in Get your 2017 Great North Run nine hours and raised over £10,000 places now! If you’re interested in of which Milo contributed €700; running for the organisation, generously donated by his French contact the fundraising team on school friends in Paris. A big thank 01280 821334 or email fundraising@rpfightingblindness.org.uk you to the team for undertaking this amazing challenge!
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INFORMATION & SUPPORT
Families Conference - May 2017 For a number of years we have been aware at RPFB, through reports from our own helpline team and our collaborative work with other VI organisations and services, that there is a growing need for us support families who have a child or children, with a diagnosis of RP and other inherited retinal dystrophies and syndromes. We know there are specific needs and concerns around progressive sight loss due to inherited eye conditions, which require special consideration and attention. In addition, the RP syndromes are often accompanied by additional complications, such as hearing loss. We hear from families who, all too often, feel alone and isolated by their child’s diagnosis, who don’t know of another family living nearby with the same condition, and have no one to share their concerns about their child’s future with. Some families are hearing terms such as, inherited retinal dystrophy, retinitis pigmentosa, and genetic management for the first time - it can be a frightening and confusing time for them and their 18
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family, especially if they can’t readily find the answers to the many immediate questions they may have. Other families may have a parent who has RP, and are concerned about their children and the prospect of passing on their condition. RP affects the entire family, whether you are the one with the condition or not, and has wide reaching implications. We aim to provide the very best information and emotional support possible. At RPFB we do not believe that anyone affected by an inherited retinal dystrophy should be left feeling vulnerable and unsupported as they face the challenges these conditions bring, and consequently we decided to develop a new event to meet this need. After consultation we are pleased to be in a position, for the first time ever, to host a weekend event dedicated entirely to families; this event will take place over the weekend of 5th - 7th May 2017 at the Hilton Hotel in Milton Keynes, starting in the afternoon on Friday 5th, and finishing at lunch time on Sunday 7th May 2017.
INFORMATION & SUPPORT
The programme of speakers and the full list of activities for the weekend has yet to be finalised, but below is a brief overview of some of the content you may expect to find included in the weekend.
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.
Plenary sessions:
We have chosen a central location, with good road and rail links and, to ensure that no one is excluded from attending due to cost, we have secured funding to cover all expenditure.
Research updates Genetic management / guidance Family experiences
Life beyond the clinic (after diagnosis, support, education, work Places are limited to 40 families, and fun, the future) and although we are not currently taking bookings, we welcome Breakout sessions: people to register their interest in Leisure activities / sport the weekend, which we hope will be Accessible technology a relaxed, informative and fun weekend for all who attend! Education (including school, college, university, career choices) To register your interest, please call Employment support and access to the office on 01280 821334, or email work sue@rpfightingblindness.org.uk Empowerment and wellbeing We will be providing crèche facilities during the day for very young children, and older children will have the opportunity to join in activities such as goal ball, and / or go on a trip to Woburn safari park. Our objective is that by the end of
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ARTICLE
Meet the team In the previous issues of Look Forward, we’ve introduced you to the Engagement Department and the Fundraising Department. This time it’s the turn of our hardworking Administration Department, which is managed by Office Manager Margaret Williams. Margaret has been with the organisation for over 12 years, in several different administrative roles. Office Margaret Williams Manager since Office Manager 2015, Margaret is responsible for the smooth day to day running of head office, and line manages the other members of the team. Margaret coordinates the administrative support provided to the other departments at RP Fighting Blindness and works closely with Finance. Before working at RPFB, she worked in the civil service and various local government departments. Many of you will have met Margaret at our annual conferences, or spoken to her on the telephone. Her job role is wide-ranging and very varied, handling all kinds of queries. 20
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The newest member of the RPFB office team having joined earlier this year in February, Melanie provides administrative Melanie Cracknell support to our Administrator Medical Advisory Board and assists with our grants approval processes. She also works with the Engagement Department, helping to collate data and organise events. Prior to working for us, Melanie worked for the Citizens Advice Bureaux for 12 years. Clair has been with RP Fighting Blindness for six years, providing administrative support across all departments. Clair Pudaruth, Office Administrative She deals with Assistant data processing, helps maintain our database, mans the telephones and answers postal and email queries from members, suppliers and interested parties. Clair also ensures the office is stocked with materials and supplies and handles new member applications.
NEWS
Cambridge Rare Disease Network International Summit 2016 By Sue Drew, Engagement Manager The second international rare disease summit took place at Robinson College, Cambridge University on Tuesday 25th October, and I attended on behalf of RPFB. The event was opened by Kay Parkinson, Chief Executive of Cambridge Rare Disease Network (CRDN), who hosted the day. It was an information-packed day, with exhibition stands representing the 100,000 Genome Project and Genomics England, alongside many rare disease charities and organisations. The day included a talk from Avril Daly, Vice President of EURORDIS (Rare Diseases Europe). Avril is formerly of Retina International and has RP herself, so fully understands the difficulties faced by those living with a rare disorder. A wide range of topics were covered, from parents speaking about their child’s diagnosis of a rare disorder, and of forming a patient group or charity where none had previously existed for their condition, through to the advances in next generation technology and how that is accelerating research and the importance of patient registries and the role of patient organisations.
We are all aware of the ongoing research into gene therapy and stem cells, the exciting prospects for gene editing, but I was very interested to hear so much talk around drug repositioning / repurposing; put simply, taking drugs which are already approved for use for certain conditions and finding out if they are effective in others. These are referred to as off-label drugs, and much discussion was given to the role of patient groups and charities, with regards to speaking to regulators and lobbying. Events like this serve to remind me, that in addition to all of the work we do within the sight loss sector, collaborating with other VI charities, that we are also a rare disease charity, and we belong to an ever expanding and diverse network, and we have great opportunity to influence at all levels, both at home and internationally. One in 17 of us will be affected by a rare disease in our lifetime.
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RESEARCH
Retinal stem cell data paves way for clinical research ReNeuron Group PLC, a UK-based stem cell research company, has announced further key pre-clinical efficacy data with its human retinal progenitor cells (hRPCs). A Phase I/II clinical trial has recently commenced in the US to evaluate the safety, tolerability and preliminary efficacy of the hRPCs in patients with RP. A Phase I/II clinical trial is a two stage trial, in which phase I sees researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects. In Phase II the drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety. The study describes work undertaken in conjunction with ReNeuron’s research collaborators at UCL Institute of Ophthalmology, London, and Schepens Eye Research Institute of Massachusetts Eye and Ear, Boston, US and assessed the long-term efficacy and safety of ReNeuron’s hRPCs using established pre-clinical rodent models, finding positive results in these trials.
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The hRPCs were well tolerated, safe and preserved retinal structure and vision up to six months postinjection in the studies. The cells also survived and integrated into both damaged and normal neural retina without adverse effects. These findings suggest that, as well as treating later stage retinal disease, the hRPCs can be deployed in less affected regions of the retina at earlier stages of retinal disease or even in normal regions of peripheral retina. ReNeuron used the above preclinical data, as well as earlier, positive pre-clinical data to support the clinical development of its hRPC cell therapy candidate, initially in patients with RP. The ongoing Phase I/II clinical study is being conducted at Massachusetts Eye and Ear in Boston, a teaching affiliate of Harvard Medical School. Initial short-term safety and tolerability data from the Phase I part of the study in the first nine patients are expected in early 2017. Longer-term safety data, as well as efficacy read-outs from the Phase II part of the study in a further six patients, are expected in the second half of 2017.
NEWS
Tactile Chess: F.D.Touch Notation RP Fighting blindness supporter Robert Meldrum has designed a compact chess board with pieces which are distinct enough for a visually impaired player to use with ease. With consultation and testing from fellow RPFB member Jane Sellers, the pieces are suitable for fully sighted and VI users alike. The board and pieces went through a more sculptural approach at first before Robert studied Jane's transcription work and changed it to a design approach instead, refining it over many months of testing employing a finger tap reconnection system inspired from Braille. They still remain figurative but have a high degree of contrast and immediacy in their very flat forms. Called French Defence touch Notational Chess Pieces, the board has received some very vocal encouragement from the Braille Chess Association for its alternative design.
produce outdoor travel sets for everybody; it aids this aspiration in being already flat, small and magnetised. They would also have a view that some of the profits of commercial manufacture would support research into RP. We wish the team the best of luck in this venture, and support this exciting project. You can check out some of the chess sets at Debut Contemporary in Notting Hill in London. If you would like to know more please email info@robertmeldrumart.com
Robert hopes that by publicising their initial bespoke chess boards, which come in slight variations, they can encourage manufacturers to retain its basic design and www.rpfightingblindness.org.uk
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Virgin Money London Marathon 23rd April 2017
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