AUTUMN NEWS
- Retina International Congress Details
- Retina Australia Research Grant Details
- Inspirational Feature Article
- Interview with IRDR & DNABank Researcher
PP: 33 1088/00015
Welcome to the autumn edition of The Achiever for 2014. This year promises to be an exciting one in terms of developments across the world in the area of research involving inherited retinal diseases. Recently Professor Robert McLaren published a report detailing his gene therapy study and an outline of the initial findings in patients with Choroideraemia who are involved in clinical trials at the Oxford Eye Hospital in London. As well, the teams involved with the Australian Bionic Eye Projects are refining their work and including more people in their clinical trials. I also know that significant work is being undertaken throughout many Australian laboratories and research institutions, with researchers collaborating both across Australia and world-wide, to establish a knowledge and understanding of the many and varied forms of inherited retinal disease which will ultimately lead to suitable treatments and eventual cures. It is certainly known that there is not a “one size fits all” solution and consequently such treatments may lie in gene therapy, stem cell therapy, pharmaceutical treatments or prosthetic devices.
RETINA INTERNATIONAL CONGRESS 2014
If you are interested in learning first-hand about thelatest research results and finding out about whatfuture investigations are planned for specificretinal diseases, you should consider attending the18th Retina International World Congress in Paris,which is being hosted by Retina France. TheCongress will be held at the Hotel Pullman MontparnasseConference Centre, in Paris, from June 27th to 29th, 2014. Registrations are now open. /If you would like information, please contact the office for a registration form and a copy of the preliminary program. Alternatively, registrations can be made on-line by clicking on the appropriate link at: On this site you will also find further information about the conference program, the social program, the organising committee, the partner exhibition, the youth program, accommodation in Paris, and much more including some possible travel discounts. Enquiries are encouraged to the Congress organisation, and their contact details are as follows:
Europa Organisation
Phone: +33 (0)5 34 45 26 45
Email :
A great aspect of these Congresses is that you meet lots of people with whom you can share stories because of the common bond in that everyone attending is affected by retinal disease in some way. You also have the opportunity to mingle with the researchers which gives you the opportunity to ask questions of them in an informal atmosphere. I urge you all to consider attending this event. The program appears to be very interesting and informative.
RETINA AUSTRALIA RESEARCH GRANTS
I am extremely pleased to be able to inform you that Retina Australia will fund two research projects in 2014. These project grants are made possible by the generous donations made by Retina Australia members and friends in all states of Australia. A summary of these projects follows and I would like to wish the researchers and the teams involved all the best for success with this research.
(i) Validation of Novel Outcome Measures for Use in Vision Restoration Clinical Trials
Chief Investigators: Dr Lauren Ayton & Dr Sharon Bentley
Amount funded: $39,630
Description: Recent advances have led to the development of potential treatments for blindness, such as stem cells, gene therapies and bionic eyes. However, the treatment effects are likely to be small in the first instance. It is challenging to detect and measure small but useful improvements in performance of essential daily activities pre- and post-treatment. The aim of this study is to assess the effectiveness of novel outcome measures of orientation and mobility (i.e. safety and independence in travel), for use in vision restoration trials and low vision rehabilitation in the future.
(ii) Finding Genetic Answers for Leber Congenital Amaurosis (LCA) Using Next-
Generation Sequencing
Chief Investigator: Associate Professor Robyn Jamieson
Amount Funded: $40,000
Description: LCA is the most severe inherited form of retinal dystrophy leading to retinal degeneration. It presents in the first year of life with the distressing news for parents that their child has severe vision impairment, that a genetic diagnosis may not be possible and that there are few treatment possibilities currently available. LCA is a markedly genetically heterogeneous condition with at least 21 causative genes identified, but each accounts for only a small number of cases. There are few diagnostic clinical features which direct genetic investigation precisely to any one of these genes, and there are no specific region/s of the genes which provide genetic answers for a large majority of the cases. In the few studies that have been undertaken to examine a number of the disease genes, approximately 40% of patients with LCA are still left without a genetic diagnosis.
Genetic diagnosis in these patients is critical since clinical trials are in progress for gene therapy for RPE65-related retinal degeneration, and research is in progress towards treatment strategies where other disease genes have been identified. Hence, in patients with LCA, it is important to know the genetic diagnosis so that steps can be taken towards research for treatment for the vision impairment. These factors, along with the need for accurate genetic information for families, highlight the need for improved capability in genetic diagnosis for patients with LCA in Australia. In this project, we propose the use of next-generation sequencing (NGS) as a strategy for improving genetic diagnosis in patients with LCA, and as a means of identifying novel disease genes in this disorder.
RETINA AUSTRALIA YOUTH
You may remember that in 2011, a small group of people from across Australia, who are all aged between 18 & 35 years and who are affected by an inherited retinal disease, combined to commence a Retina Australia Youth Group. Their main aim was to discuss and raise awareness about youth issues relating to their eye conditions and to build a support network. Consequently, they established a “closed group” on Facebook called “Retina Australia – Youths”, where only members see the posts.
If you are in the age group as mentioned, and have an inherited retinal disease, I encourage you to join the group on Facebook and share your stories. Alternatively, if you know someone who fits these criteria please tell them about the group so that they can join as well. Currently there are thirty-two members and we would encourage everyone who is eligible to join and assist the Retina Australia youth community to identify key issues and opportunities.
Two members of this group attended the inaugural youth program of the 2012 Retina International Congress in Hamburg, meeting with delegates from Germany, Finland, Norway, Sweden, Japan and New Zealand. A similar program has just been announced for the Retina Youth meeting in Paris to be held in conjunction with the 2014 Retina International Congress on 26-29 June. The program is still under development, but will include a bus tour of Paris, teambuilding activities in a park and specialised sessions during the Congress for those under 35.
Updates regarding the program can be found on Facebook in the group Retina International Youth. Prospective attendees can book your hotel stay at and keep in touch via the Facebook pages, through the Congress website itself, or by contacting the office via email or telephone to register your interest.
TARGET 300 TO FIGHT BLINDNESS
We are very appreciative of the support of our members, their families and friends who have responded to this campaign to support people who are losing their sight through inherited retinal diseases. You may have heard in the media recently that up to one half of the donations to some of Australia’s most well-known charities are spent on fundraising costs. Our Target 300 campaign represents one of the most effective uses of dollars donated in Australia, as 100% of the donated funds are used for research in Australia through the Inherited Retinal Diseases Register and DNA Bank (IRDR). No part of the Target 300 funds is used for our administration, which is a lean operation supported by memberships and direct donations. At this stage we are still short of our target of 300 supporters who are committed to funding this specialised IRDR research. If you wish to discuss this campaign, or believe that you, a family member, or friends are able to assist, I would encourage you to contact the office for information.
I Care for RP Cure
The following piece was recently published online by Lisa Xenophondos, who works as a beauty therapist and pharmacy assistant in Sydney. She has been married to her partner, Nick, for fourteen years. Lisa is determined to spread awareness of Retinitis Pigmentosa wherever she goes in order tofind a cure.
I’m passionate about raising money for research and finding a cure for RP because my sister, Rochelle, and now her two young sons, suffer from this disease. When my sister’s first grade teacher noticed that Rochelle followed the walls of the room to exit rather than simply cutting across like the other kids to get out, shetold my mother that Rochelle should get her eyes tested. /Rochelle and Lisa
Thus, at age 6, Rochelle learned she had RP. Rochelle grew up accepting her RP. In fact, she would get annoyed that Mum would bawl her eyes out after each ophthalmologist appointment. My sister would say, “It’s no big deal. I’m used to it. Yes, I struggle, but I can still see.”
But in high school, Rochelle struggled. The mean girls in high school made her life hell. People took advantage of her because of her kind heart, and I couldn’t stand it! I became her biggest defender. After high school, I made sure Rochelle got out. At night, we often had difficulties due to her poor vision. Once, a stranger on the street gave her a hard time because she ran into him. While Rochelle got embarrassed and tried to play it down, the bogan in me came out and I gave him such a mouthful–all about the effects of her eye disease. I wanted him to have a dose of his own medicine for giving her the third degree at “not watching where she was going.”
Finally something wonderful happened. Rochelle met Chris, who has a Maltese background. They had a fun, adventurous relationship–bowling competitively, dancing and sharing their hopes and dreams. Amazingly, Rochelle and Chris took an advanced scuba diving course and went thousands of feet under the sea. Wow! I couldn’t do that, but Rochelle could.They even travelled around the world, tasting each country’s local cuisine and drinks.
In 2002, Rochelle and Chris married in western Sydney. Not once did my sister complain about her poor eyesight. She refused to let it get in the way of her having a quality life. I remember being so proud of her. She didn’t need me or anyone. She was perfectly poised and independent, taking the steps in her life to make her dreams come true.
In 2007, Rochelle had Liam. I picked him up and cuddled him. In absolute awe, his beautiful electric blue eyes stared right into my heart and soul. This was the moment. My heart melted and I fell in love, and from that point on, I would do anything to protect him. A year later, Daniel was born and I felt the same way about him. Over time, I noticed “signs” in Liam. I prayed that what I suspected wasn’t true. A few months later, Rochelle took him to the ophthalmologist and indeed, Liam was diagnosed with RP. He was 4 years old.
Rochelle with Liam and Daniel / Rochelle’s built in suffering over the years with this disease came out in tears as she ran out of the office with the news of this diagnosis. She felt it was her fault that she passed on this disease to her son. Words cannot describe the hurt and pain that we felt that week in our devastation. To make matters worse, Daniel, the car, bike and trailerloving brother, was diagnosed with the disease too the following year.
I had to do something. I was so angry and frustrated. More is known about RP now. Much more research is being done in comparison to when Rochelle was diagnosed. I wanted to funnel my energy into raising money for research. I want a cure! I want it so badly.
Before this happened, Rochelle shied away from having anything to do with vision-impaired groups. But we are united now in our efforts, and actively participate in fundraising. In 2012, we raised $6,000 through a raffle and generous donations for a nightclub event we hosted in a Sydney hotspot. In 2013, we organised a 14km City-to-Surf run/walk event at Bondi beach with the Sightfighters group and raised $3,000.
Rochelle doesn’t shy away from help now, and feelsveryempowered by what we have done in the face of this horrible sight stealing disease. We will continue to do so until Liam and Daniel and many other kids and families that have RP find some kind of cure.
City to Surf Fundraiser with Sightfinders
Source: amybovaird.com
Technology on Display
Italian classical singer Andrea Bocelli says he might one day get to use the tools that researchers around the world are developing with support from the foundation that bears his name, the Andrea Bocelli Foundation. Scientists and engineers working on high-tech hardware and software to help people with low or no vision gathered at Massachusetts Institute of Technology last December to share some of what they're working on.
Technology on display included a smartphone app that uses a camera, accelerometer and compass to help a blind person navigate an intersection, a computer vision program that can read body language, and retinal prostheses to replace damaged photoreceptors.
The topic of assistive technology for the blind hits close to home for Bocelli, 55, who was born with congenital glaucoma and lost his sight completely after a childhood soccer accident. Bocelli introduced the proceedings and was on hand to listen to the futuristic presentations.
"I'm here just to support the people who are actually working, to thank the people who have done the work," Bocelli said through an interpreter. Perhaps, he added, he might one day use the tools that researchers are developing with support from his foundation. "I've always been very technologically inclined," Bocelli said. "I'm really impressed by the progress of technology so far." /A collaborative effort between researchers from Northeastern University in Boston and MIT's Computer Science and Artificial Intelligence Laboratory, has resulted in a project to developwearable sensors to detect terrain and environmental hazards, recognise nearby people and read text. Team members have also created a bicycle that uses computer vision to help a blind person navigate around an outdoor track.
"It's just great to see the money and the mind-power behind this," said Rabih Dow, a director at the Carroll Centre for the Blind in Newton, Massachusetts, who came to listen to the presentations. Dow, 47, has been totally blind since age 16, and during that time he has benefited from great improvements in assistive technology. While the first adapted computer he used in the 1980s was "massive" and cost tens of thousands of dollars, today he carries an iPhone equipped with an array of apps that help him read the newspaper, navigate city streets and distinguish denominations of paper currency.
Source: Amy Crawford, Associated Press, Minneapolis Star Tribune, 6 December 2013.
Interview with IRDR and DNA Bank Researcher
Below is an edited transcript of an interview conducted with Tina Lamey (pictured), Senior Research Scientist, Inherited Retinal Disease Register (IRDR) and DNA Bank, at Sir Charles Gairdner Hospital, WA. The interview appeared on Channel 10 on 18 January. Many members who have donated DNA to this project have had contact with Tina. /Tina makes particular mention of the importance of long term funding for the project, to which Retina Australia has been a major donor. Retina Australia (Vic) is still seeking interested people willing to donate to the IRDR and DNA Bank through its Target 300 campaign set up specifically for this purpose.
- Could you tell us a little bit about your research?
We started it many years ago before there were any treatment options on the horizon for these patients with inherited retinal diseases, and we primarily wanted to put together an Australian database including all different kinds of information. But of particular importance was the DNA because we understood that the treatment options in the future would be most likely be gene based personalised therapies.
- So how exciting is the research you’re doing?
It’s very exciting. We love it. We wouldn’t do anything else. It’s a privilege to be involved in something where we have an opportunity to help people suffering from degenerative diseases.