SPECIAL CONGRESS EDITION VISION QUEST 2000 - CANADA

The 11th World Congress of Retina International was held in Toronto, Canada from July 11 - 16th 2000. The Congress was attended by 650 people including scientists, ophthalmologists and patients. There were representatives from Australia, Brazil, Canada, Finland, France, Germany, Greece, Holland, Hong Kong, Hungary, Ireland, Jordan, Japan, Mexico, New Zealand, Norway, Pakistan, South Africa, Spain, Sweden, Switzerland, United Kingdom and United States of America. South Africa was represented by Gordon Cousins (National Chairman), Claudette Medefindt (National Secretary), Gail Cillie (National Vice Chairman and East Cape Chairman), James Cape (Gauteng Chairman), John Foster (Kwa-Zulu Natal), and two scientists - Professor Trevor Carmichael, Chairman of our Scientific and Medical Advisory Board, and Professor of Ophthalmology at Wits, and Professor Raj Ramesar, principle investigator of our Gene-tracking Project at UCT. The Congress started with a meeting of the Retina International Management Committee on Thursday 11th attended by Gordon. On the Wednesday there was a Continuing Education Meeting for all interested delegates. The morning session featured presentations from different countries and Gail did an excellent presentation of the South African Blue Ribbon of Hope Project. Other presentations were made by Canada, Greece, Hong Kong and Germany. In the afternoon, scientists presented a high level summary of the research activities across the world.

On Thursday the Retina International General Assembly was attended by 19 member countries. The General Assembly is the world governing body for Retina International and South Africa was represented by Claudette and Gordon. We played a major role in resolving certain global conflicts in the areas of finance and membership and both Gordon and Claudette were elected as members of the International Management Committee of Retina International. The Congress proper started on Friday and featured simultaneous scientific and non-scientific presentations, which required the South African delegation to split up in order to attempt to cover as many of the presentations as possible. Friday evening, the Retina International President, Christina Fasser from Switzerland, called a meeting of the new Management Committee from 5.00pm to 10.00pm to plan the strategies and activities of Retina International for the next 2 years. Gordon was asked to chair the Membership Development Committee and co-ordinate membership administration and will serve as a member of the Finance Sub-committee chaired by Carol Brill of Ireland. Claudette was elected to the International Congress Sub-committee and, together with Sharon Colle of Canada, will work with the President, Christine Fasser, on the structure for the next Congress in Japan, as well as serving as Minute Secretary to the Management Committee.
On Saturday and Sunday the scientific and general audience sessions continued, broken only by a gala dinner/dance on Saturday evening which honoured the organisers of the Canadian Ride for Sight, a motorcycle fundraiser which raises $1 million annually for the Foundation Fighting Blindness, Canada.
The Congress closed on Sunday at 12.00 noon with an invitation from the President of Retina Japan to attend the 12th World Congress in Japan from 1 - 3 August 2002.
The South African delegation then held a congress debrief meeting to establish objectives and action plans aimed at maximising the benefits of the congress to South Africa. The attendees would like to express their thanks to the RP Foundation of South Africa for fully or partially sponsoring their attendance at the Congress.

HIGHLIGHTS FROM THE SCIENTIFIC SESSIONS

53 scientists from 8 countries gave presentations on the latest research progress in their areas of expertise. What was really exciting was to note both the accelerated pace of research in areas which have been explored in the past, together with the broadening of the scope of research to include new frontiers and a significant thrust towards the development of treatment.
Another exciting development was the obvious coming together of what was once diverse areas of research. Gene therapy researchers have developed viral vectors to deliver altered genes to the retina. This process may also be used to deliver potential cell rescue agents, such as growth factors to the retina. Cell transplantation techniques perfected to implant retinal cells may also be used to assist in cell rescue. The exciting discovery of stem cells which survive in the human retina may provide us with the cells to replace dying photoreceptors. Stem cells are the basic pre-cursor cells from which specialised cells such as photoreceptors were derived in early foetal development. Dr van de Kooy's electrifying presentation on his work in this area was definitely one of the congress highlights.

Dr Raymond Lund gave us a clear picture of the two thrusts of research

1. To stop the further degeneration of cells in the retina.
2. To encourage new cell growth and restore lost vision.

Professor Alan Bird, of Moorfield Eye Clinic in London, estimates that gene based therapy will begin in 3 - 5 years time.
This implies that only people who have had their gene type identified will be eligible for therapy trials. Over and over the researchers stressed that the patients are a critical factor in any research progress. Patients need to visit their ophthalmologist regularly and have their DNA banked in a gene tracking project.
Professor Zrenner from Germany and Professor Rizzo from America, both gave presentations on the progress being made in the retinal chip, the artificial retinal implant. Although still far from ready for human trials, progress being made is real. All the researchers in this field agreed that diversity in their approach is essential for the development of an effective implant. The increasing pace of research was highlighted in an excellent paper by Dr Mark Pearson. All the genes responsible for retinal degeneration will probably be identified in the next few years. The next step is identifying the protein that is made by each gene. This can now be done in a few minutes instead of a few years.

Professor Raymond Lund of England helped us all to focus on what we were there for. He eloquently summed up the essence of the congress by saying: "So what I've brought together is that gene therapy, growth factors, cell transplantations and stem cells will now form a united approach. We are going to see that these separate entities are actually becoming one and that we are going to approach (research) in a more global way. For us scientists this requires a change of direction. We are all (normally) forced into what you might call the Nobel Philosophy, where you have to be first there with the great result and great effort. One thing I have learnt from these (conferences) is that this is an arrogant and self-serving exercise and attitude. You people (patients) don't want to see any of us getting our big prizes, you want to be cured. Our responsibility is to you and not to ourselves."

Editor's note: The patient's responsibility is to support our dedicated researchers by giving our time, our effort and total commitment to raise the funds they need, to contribute our blood, to attend Retinal Clinics, and to do everything we can to speed them on their path to a treatment and cure for all Retinal Degenerative conditions.

REPORT ON THE 11TH WORLD CONGRESS BY PROFESSOR TREVOR CARMICHAEL

The recent announcement of the completion of a large part of the Human Genome Project five years earlier than originally expected came as a welcome surprise. It serves to underline the tremendous activity and rate of current advances in genetics.
In Toronto several of the speakers, including Alan Bird, commented on the fact that most of our knowledge comes from the last ten years. Gene cloning is now regularly reported and comes as no surprise. Professor Bird felt that within 3-5 years we will have cloned over 95% of the genes responsible for retinal degenerations.
The exciting shift in emphasis appears to be to protein structure and function. This shift from genomics to proteomics does not mean the genetic work is over. Several decades of work on the required detail will still take place, however the data basing of protein knowledge on the internet has begun. Hogue and Pearson both spoke about databases which will share knowledge about discoveries. The Biomolecular Interaction Network Database (BIND) is aimed at consolidating the years of previous research into the molecular mechanisms of life - how proteins are assembled into pathways - and will integrate it with the genome sequence information. Thus while the genetic work continues new effort is being applied to the next step - protein analysis - to directly begin to look for cures.
McInnes from Toronto outlined a subtle shift in thinking about how the photoreceptor cells die in retinitis pigmentosa. He said the photoreceptor cells have an increased risk of death but are not otherwise very sick as a whole. It is a small problem with the cell - if it wasn't they would all die quickly - and some survive a long time. This means that about 10% of the cells die annually in a steady way. This is a different concept than the previously held idea that it was a cumulative damage disease - so all cells were sick but some were sicker. It appears that they have this increased risk from birth but often the number of cells which die is not enough to be clinically evident before 10-20 years of age. This gives us encouragement that we might be able to act (treat) early and the cells that are preserved will be normal ones or ones which function well. We look forward to exploring this concept further.
We were fortunate to have Derek van der Kooy present to outline his work on retinal stem cells. He emphasized the significant problems that must be overcome before this type of technology is clinically useful as treatment. The important message was that there are multi-potential retinal stem cells present even in elderly patients and these cells can become any of the specific retinal cells including photoreceptors. This provides a whole new avenue for further research and possible therapy.
Many contributors to the meeting updated us as to progress being made in gene therapy and new genes which have been discovered. In addition, Visudyne therapy was discussed in some detail and the specific patients this might help.
It was wonderful to be able to participate in the sessions with patients present and this really drives home to the scientists what their research is all about.

REPORT ON THE 11TH WORLD CONGRESS BY JAMES CAPE

Fantastic is probably the only word that describes the congress. It is indeed a privilege and an experience of a lifetime to be part of, and experience, a world congress. To share the enthusiasm of the scientific community and listen with bated breath to every word they deliver, realising just how much research is taking place and, at the same time, be exposed to the progress that they have made.
The experience of sharing facilities with some +- 600 folk from all over the world who have a similar eye condition to you in itself is an "eye opener" and makes you realise that you are not alone in this world but a member of a unique family.
To hear and appreciate just how much work foundations in the world are doing is reassuring but at the same time highlights the important role that South Africa plays. Gordon and Claudette are major players on a chess board of international players and it goes without saying who the dealers and wheelers are in this game.
I can only say that I was indeed privileged to be there and can only encourage all to be in Japan in the year 2002.

SUMMARY OF SCIENTIFIC SESSIONS -Plenary Session I

Retinitis pigmentosa and retinal dystrophies: defining the scope of the problem. Professsor Alan Bird (The Institute of Ophthalmology, London, England) discusses what doctors mean by retinal dystrophy and retinitis pigmentosa and gives an overview of current research efforts to treat these diseases.

Why are there so many genes causing retinal degeneration?
Dr Stephen Daiger (University of Texas, Houston, U.S.A.) talks about the unexpectedly large number of genes involved in retinal disease found over the last ten years.
Finding genes using a linkage approach. Professor Shomi
Bhattacharya (University College, London, England) describes one technique used to isolate genes that contribute to inherited retinal disease.
Why do we also find genes using a candidate gene approach?
Dr Ted Dryja (Cogan Eye Institute, Boston, U.S.A.) describes another technique used to find genes that cause retinal dystrophies and other diseases.
Why do the photoreceptors die in retinal degeneration?
Dr Roderick McInnes (The Hospital for Sick Children, Toronto, Canada) describes why photoreceptors, the cells essential for vision, die in eyes that have retinal dystrophies.

Animal models to study retinal diseases: Dr Debora Farber
(The Jules Stein Eye Institute, Los Angeles, U.S.A.) describes the important role that animals play in the study of inherited retinal diseases

Age-related macular degeneration: Defining the scope of the
problem. Dr Ron Klein (University of Wisconsin, Madison, USA) extensively studied the incidence and prevalence of age-related macular degeneration in a large population in Beaver Dam, Wisconsin. He will discuss the results of this landmark study and review the implications it has on our understanding of this eye disease.

Highlights in the genetics of AMD: Dr Ed Stone (University of Iowa, Iowa City, USA) will discuss recent discoveries and theories about the role genetics and inheritance plays in age-related macular degeneration.

A general perspective on therapeutic approaches to AMD: Dr Patricia Harvey (University of Toronto, Canada) will draw upon her experience as an ophthalmologist and clinical researcher involved with the recent TAP (Treatment of Age-related Macular Degeneration with Photodynamic Therapy) study to provide an overview of current and potential treatments for AMD.

Therapeutic approaches to retinal dystrophies: an overview Dr Joe Hollyfield (The Cole Eye Institute, Cleveland, U.S.A.) will offer an overview of the various strategies researchers use in their quest for treatments for diseases that affect the retina. He will discuss various forms of gene therapy as well as pharmacological approaches.

SCIENTIFIC SESSION I
Histopathology of the human retina in retinitis pigmentosa - A Milam
The role of immune-mediated pathways in drusen biogenesis and AMD - G Hageman
Insights into the role of ABCR in macular degeneration - R Molday
Lessons learned from animal models - D Bok
Animal models: study of disease process and therapeutic intervention -E Zrenner Development of strategies for suppression of dominant mutations - P Humphries
Therapies for AMD: development of PDT and new strategies for the future - J Miller
Future role of gene therapy - W Hauswirth
Pharmacological approach to neuroprotection - J Sahel
Survival factor gene therapy for retinal degeneration - J Flannery
Manipulation of apoptosis: a therapeutic outlook - R Korneluk
Retinal implants and artifical vision - E Zrenner

SCIENTIFIC SESSION 2
RetNet :The Retinal Information Network - S Daiger
How to optimise the use of worldwide data and designing a useful database: the Retina International Scientific Newsletter approach -
M Preising
BIND: Integrated genomic information with molecular mechanisms and disease - C Hogue
From the bench to the bedside: inhibiting apoptosis as a gene therapy approach for retinitis pigmentosa - R Korneluk
Bridging academic science and industry - M Pearson
A roadmap to health: basic science to clinical trial to application - B Gallie
An idea becomes a research reality - P Harvey

SCIENTIFIC SESSION 3

Epidemiological approach to AMD and retinal diseases - A Bird
New thoughts on Usher syndrome - W Kimberling
Molecular perspective on Leber congenital amaurosis - J Kaplan
Exploiting opportunities: Finding a gene for Enhanced S-cone syndrome - V Sheffiled
A molecular perspective on congenital stationary night blindness -
N Bech-Hansen
Na/CK exchanger proteins structure and function - P Schnetkamp
What we have learned from bestrophin - K Petrukhin
The GUCYI*B Chicken - amodel for Leber congenital amaurosis - type l - S Semple-Rowland
Congential stationary night blindness: recent discoveries -
N Bech-Hansen
Photoreceptor-pineal gland genes causing Leber congenital amaurosis - S Daiger
Inherited Retinal Degenerative Disorders :Sowing the seeds of genetic research in Africa - R Ramesar

PLENARY SESSION 2

Summary of scientific sessions: Dr Alan Bird (The Institute of Ophthalmology, London, England) updates the audience and shares the latest news emerging from the past two days.
The battle against AMD : Newer pharmacologic therapies : Dr Joan Miller (Harvard, Cambridge, U.S.A.) will talk about upcoming treatments for AMD and discuss the promise of new treatments.
Surgical approaches to macular degeneration: where we stand: Dr Alan Berger (Sunnybrook Health Sciences Centre, Toronto, Canada) will discuss innovative surgical techniques to treat AMD and their long-term outlook.
The role of immunity in retinal dystrophies : Dr John Heckenlively (The Jules Stein Eye Institute, Los Angeles, U.S.A.) will explore links between retinal dystrophies and the immune system.
Gene modifiers of light-induced retinal degeneration: Dr Michael Danciger (The Jules Stein Eye Institute, Los Angles, U.S.A.) talks about the influence of light in retinal cell degeneration.
Gene therapy for retinal dystrophies: What we can expect from the future. Recent mapping of the human genome has great implications for the future treatment of retinal disease. Dr William Hauswirth (University of Florida, Gainsville, U.S.A.) will discuss the potential of gene therapy.
Adult retinal stem cells: transplantation might not be the future. Dr Derek van der Kooy will update us on his recent findings.
Rescue of retinal cells: cell therapy and neuroprotection: Dr Jose Sahel (University Louis Pasteur, Strasbourg, France) will talk about the potential use of drug therapy to slow the rate of inherited retinal disease.
Retinal prosthesis: perceptual results for human testing: Dr Joseph Rizzo (Harvard, Cambridge, U.S.A.) discusses retinal implants and the future of artifical vision.
Low vision: prospects for the new millennium: Are innovations in technology revolutionizing assistive devices? Dr Graham Strong (University of Waterloo, Waterloo, Canada) will give an overview of new developments and discuss realistic expectations.
Retinal transplantation: what lies ahead? The prospect of transplanting retinal cells is an exciting one and Dr Raymond Lund (University College, London, England) will address the issues that challenge this type of treatment.

¨ A full copy of abstracts of scientific sessions is available from the National Office
¨ Tapes available at R10 (refundable) per tape from your local RP Branch
¨ 5 tapes of scientific sessions 1 and 2, 2 tapes of Plenary Session 2 and 7 tapes of General Audience Session

General audience sessions.

Tape 1 What is macular degeneration - Ron Klein ( The University of Wisconsin Institute on Ageing, Madison, U.S.A) and Dr. Carol Schwartz (Sunnybrook Health Sciences Centre, Toronto) will present basic medical information about macular degeneration and lead a question and answer session.

Tape 2 A) Genetics of retinal diseases: a primer - Eye genetics experts Dr. Ted Dryja (Cogan Eye Institute, Boston, U.S.A.) and Dr. Alex Levin (The Hospital for Sick Children, Toronto) will present basic information about inheritance and retinal degenerations. A question and answer session will follow their discussion.
B) Usher Syndrome: a medical update - Experts Dr. Bill Kimberling (Centre for Hereditary Communication Disorders, Boys Town, U.S.A.) and Dr. Robert Koenekoop (Montreal Children's Hospital, Montreal, Canada) will present basic medical information about Usher Syndrome and take part in a question and answer period.

Tape 3 A) Science of Discovery: a layman's guide - Take this opportunity to learn from world-famous scientists Dr. Dean Bok (The Jules Eye Institute, Los Angeles, U.S.A.) and Dr. Rod Mcinnes (The Hospital for Sick Children, Toronto, Canada) as they demystify research by presenting it in layman's terms. Topics include: How are genes discovered? What do researchers do with these discoveries?

B) Treatment of Age-related Macular Degeneration: what's coming? - Dr. Joan Miller (Massachusetts Eye and Ear Infirmary, Boston, U.S.A.)and & Dr Carol Schwartz (Sunnybrook Health Sciences Centre, Toronto, Canada) discuss emerging treatments for AMD. This is a great opportunity to learn about what's on the horizon for individuals with age-related macular degeneration. Questions are welcome.

Tape 4 A) Cateract Surgery for RP/AMD - Ophthalmologist Dr. Ian MacDonald (The University of Alberta. Edmonton, Canada) and Dr. John Heckenlively, (The Jules Steyn Eye Institute, Los Angeles, U.S.A.) will answer common questions about cateracts and explain the risks and benefits of cateract surgery.

B) Alternative treatments, do they work? - In this workshop, Dr. Alex Levin (University of Toronto, Canada) and Dr. John Hekenlively (The Jules Stein Eye Institute, Los Angeles, U.S.A.) will review several alternative therapies, presenting the audience with a strategy to evaluate them.

Tape 5 Low vision devices: emerging assistive technologies. How does research translate into practical low-vision assistive devices. Dr.Graham Strong (Sight Enhancement Centre, University of Waterloo, Waterloo, Canada) reviews emerging technologies used to develop low-vision assistive devices. His overview will address the gap between the hype of many breakthrough research announcements and consumer expectations and needs.

Tape 6 A) Experimental surgeries: transplantion and implants.
Retinal cell transplants and retinal prosthesis (chip) technology could be a way to restore sight in the future. Leading-edge authorities Dr. Raymond Lund (University College, London, England) and Dr. Eberhart Zrenner (Tubingen University, Germany) will discuss experimental surgeries and address the potential of transplants and implants.

Tape 7 A) Treatment of RP: what's coming - Research is moving forward. Listen to authorities Dr. Joe Hollyfield ( The Cole Eye Institute, Cleveland, U.S.A.) and Dr. John Flannery (University of California, Berkley, U.S.A.) present information on potential upcoming treatments for Retinitis pigmentosa and related retinal dystrophies.

B) Macular Dystrophies -Dr. Jill Hopkins (Sunnybrook Health Sciences Centre, Toronto, Canada) and Dr. Alex Levin (The Hospital for Sick Children, Toronto, Canada) will present medical information on rarer forms of macular dystrophies including Stargardt Disease, Best Disease and juvenile onset macular degeneration.