O U R V I S I O N I S C L E A R
The newsletter for families and supporters of the
Foundation for Retinal Research
FRR Visions
http://www.tfrr.org/ • info@tffr.org • 1-224-927-5063
Sally Lewinski, editor
Family to Family: Johansen Family Voyage ‘Take a Stand for FRR’
By Laura Johansen
I earned my degree in English Literature from Santa Clara University almost 20 years ago and have not had a lot of opportunity to use it since then but I spent a little time this year reflecting on what all of this has meant to us over the past 6 years and wrote something I would like for you to read. My mom and dad will be so happy that I am using my degree at last. Please indulge me while I wax poetic for a bit….
Mark and I set sail on our Parenthood Voyage in 2001, with our first daughter Emily and the sailing was smooth, winds were fair, boat was sturdy, and our direction was clear.
In 2003, our second daughter Clara was born and we were thrown off course when she was diagnosed with Leber’s Congenital Amaurosis. It seemed like we were headed into unchartered waters, with stormy seas and absolutely no map to help us find our way. It felt scary and confusing to us and we were not sure how to navigate this squall. Our ship was righted by our strong family who helped us get this boat ready to sail again. The boat was not in dry dock for long, and I credit our family with its quick restoration. They should be a NASCAR pit crew, they are that reliable!! Soon after, we were introduced to the Foundation for Retinal Research and it was like the perfect nautical map, providing us direction, confidence, knowledge, and purpose for our voyage. So with our boat fixed and our map in hand we set sail… what we never expected was to have 5 years of fair weather, sunny skies, and the perfect gusts of wind filling up our sails when they needed a push. Our friends and community provided us the fair weather and the annual Johansen Walk began.
When we are in the throws of preparing for the walk -- stressing over auction bid forms and park permits -- we’d get a letter someone had sent with their donation saying that Clara inspires them, or that our work is important and we should be proud; or that our family means a lot to them. It puffs up our sails and pushes us along on our journey with a smile on our face, like a fresh breeze out at sea. With the uncertain nature of Clara’s eye condition and of life in general, undoubtedly we will continue to encounter tough times out at sea. But with a sturdy boat, a good map and fair weather we feel a lot better about our voyage.
Clara is an incredible girl, who is the captain of her own ship. If I were to name her ship it would be called “Spirit”. She would want it to be called “Beautiful Fancy Dress with Great Shoes.” A lot of people tell me how much they love Clara, she truly makes an impression on people and I think it is because she has such a great spirit. She is a smart, confident girl with a sharp wit that keeps us laughing all the time. I am so proud of her. We look to the future with confidence and see her continuing on her own voyage with those around her filling her sails with favorable breezes. Mark and I learn so much from her. We are so grateful for her, Emily and all the people that we are honored to call our friends and family.
New fundraiser for FRR is 'sweet' for one family
The Bushland family in Minnesota used the ‘Take a Stand for FRR’ fundraiser to bring in a over $1,300 for the Foundation for Retinal Research!
Take a Stand for FRR - New fundraiser is fun and easy
Ready to take a stand ... literally? Now you can make a stand: a lemonade stand in your neighborhood and/or online. FRR’s newest fundraising package will help you, your neighbors, your friends and family get involved and make a difference.
You can host a lemonade stand in your community or online … or both! Help us put the squeeze on LCA. This is a great way to raise money and be part of FRR’s effort to find a cure. Get your community talking about LCA. Everyone wants to help, and this is the way you can get people involved.
2010 LCA Conference will be in Philly
FRR Founders David & Betsy Brint are excited to announce that the 2010 LCA Family Conference will be held Friday, July 30 through Sunday, August 1 in Philadelphia in conjunction with the Scheie Eye Institute at the University of Pennsylvania.
Betsy’s Corner
A message from the President and 1st Lady ...
Drum roll please … we are excited to announce that the 2010 LCA Family Conference will be held Friday, July 30 – Sunday, August 1, 2010 in Philadelphia in conjunction with the Scheie Eye Institute at the University of Pennsylvania and once again cosponsored by Derrek Lee’s 1st Touch Foundation. Mark your calendars and start planning – you will not want to miss it.
We are very proud of so many of the things we do at FRR. We fund groundbreaking research, facilitate communication among scientists, provide information to families via our website and newsletters and more. But, every other year for the past 12 years, we have held an LCA Family Conference that has been life changing for individuals and families affected by LCA.
The LCA Family Conference is a place where people with LCA and their families have the unique opportunity to meet, mingle and learn from the top doctors and researchers in the world who are making a difference in the current and future treatments or cures for LCA. Families also get a chance to network with one another and share stories and strategies for raising our children who are visually impaired. In addition, families that sign up in advance will have access to medical appointments for eye exams and tests at the Scheie Eye Institute during the conference.
We are unable to provide group childcare at this conference because of the location, but we will have a list of qualified baby sitters if people want to bring babies and children (more information to follow.) We ask that children under the age of ten not be in the conference sessions but they are welcome at meals and receptions. Teens will have the opportunity to either participate in the conference sessions or take part in planned activities or outings.
Hotel rooms have been reserved at The Inn at Penn (a Hilton Hotel) located at 3600 Sansom Street, Philadelphia, PA 19104. Reservations can be made by calling 215-222-0200, mention the Foundation for Retinal Research or the LCA Family Conference for the group rate of $119. Registration forms and conference details will be available on our website at http://www.tfrr.org/ beginning November 15th.
From Russia With Love Natasha Pisarenko doesn’t let her visual impairment get in the way of living life to the fullest. She is an accomplished musician, young composer and an avid braille reader. Her parents Nikolay and Olga along with her sister Olga encourage Natasha to pursue her dreams. In Russia, Natasha was the first child who is blind to attend a mainstream school. She has excelled and paved the way for others. The Pisarenko Family have been active members of FRR for more than ten years. We very much look forward to the day when they can come visit the United States and meet other families affected by LCA.
Bushlands Squeeze out Success from Lemonade Stands
By Patty Bushland
When you find out your child has a genetic disorder you want to treat it like other disorders out there ... schedule the surgical procedure or maybe give them the latest prescription medication. We found it very difficult when the doctor told us there was nothing we could do to help our daughter Mary Rose, who is blind from LCA. He was wrong! We soon found out from the Foundation for Retinal Research about the research that was progressively moving forward to help those with visual impairments. We discovered we are indeed able to do something for Mary Rose ... we could fundraise to make sure the research continues and a cure is found.
Three years after Mary's diagnosis, our three years of fundraising has rubbed off on Mary's siblings. This past New Year’s Eve our son Matthew (12) made his New Year’s Resolution, to raise $100 for Mary Rose ... a proud Mom moment. Later in the year his brother Danny (9) joined him in his endeavor and together they planned a lemonade stand. It was literally as easy as making lemonade. It was heart warming to watch as their friends joined in to help. Some passers-by where so touched by Matt and Danny's love for their sister that they would buy a $5, $10, and yes, even a $100 glass of Lemonade. When it was over they raised more than $600 from their Lemonade Stand. What an unforgettable fun summer day. It gets even better. When word traveled of the boys fundraising efforts, family and friends sent checks in the mail. Best of all Mary Rose's cousins Connor (11), Benjamin (9) and Maddie (1) saw pictures we sent out via email and said "Mom, that looks fun! Can we do one for Mary Rose?" So they put together their own lemonade stand. They sent out flyers beforehand, made posters and had baked goods. When it was over they raised more than $700!! WE couldn't have received a more loving expression of support then we received from my cousin Sheri and her family.
It's amazing to think that from this simple idea of selling a glass of lemonade these young boys with big hearts raised over $1,300 to help find a cure. So there IS something you can do. Have a lemonade stand ... it will be the sweetest glass of lemonade you ever had!
FRR wishes to thank the Bushland Children for their successful efforts on our behalf.
Scientists see unexpected gain a year into blindness trial
University of Florida Media Release
GAINESVILLE, Fla. — Scientists have discovered that even in adults born LCA, the brain can rewire itself to recognize sections of the retina that have been restored by gene therapy.
The discovery of the brain’s surprising adaptability comes a year after three blind volunteers received doses of corrective genes to selected areas of their retinas at Shands at the University of Florida medical center.
Now, more than a year later, researchers say tiny portions of the patients’ retinas that have received gene therapy have kept their restored function, as much as 1,000-fold increases for day vision and 63,000-fold for night vision.
But in an unexpected finding, scientists writing in the Aug. 13 New England Journal of Medicine say the treated parts of the retinas may have acquired enough image-processing strength to rival the retina’s normal center for visual perception, called the fovea, for the brain’s attention.
The discovery suggests that even in adults with mature visual circuitry, the brain can find new ways to process optical information, say researchers with the UF Powell Gene Therapy Center and the Scheie Eye Institute at the University of Pennsylvania.
“When one patient came back for her 12-month visit, she said she could read the digital clock in her parents’ car with her treated eye — something she was never able to do before,” said William W. Hauswirth, a professor in the ophthalmology department at the UF College of Medicine. “That prompted us to measure where her gaze was fixed while looking at a variety of dim targets. This showed that she now has two preferred centers of vision rather than one, depending on the brightness of the object.”
The new region is more sensitive to light, but it is not as precise as the fovea for making bright images sharp. “Her brain tells her to use the best part of retina she can, depending on the situation, so she automatically shifts back and forth between the usual region and the region we supplied to her,” said Hauswirth, who is associated with the Powell Gene Therapy Center and the UF Genetics Institute.
In the study led by Dr. Samuel G. Jacobson, a professor of ophthalmology at the University of Pennsylvania, and supported by the National Eye Institute, researchers used an apparently harmless virus that already exists in most people to deliver RPE65 to a small area of the retina.
In October 2008, researchers reported that the study volunteers — one woman and two men ranging from 21 to 24 years old — could see brighter areas and perhaps images.
“What’s truly been remarkable so far, beyond the gene therapy to the retina, is how well the visual parts of the brain are adapting to the treated eye,” said John G. Flannery, a professor of vision science, and neurobiology at the Helen Wills Neuroscience Institute at the University of California, Berkeley, who did not participate in the research. “You could almost say the patients’ brains are getting better at paying attention to the genetherapy treated area, because it is functioning at a higher level.”
RESEARCH: Giving sight to blind is focus of gene replacement surgery ay UMASS Med
WORCESTER TELEGRAM & GAZETTE
WORCESTER — David Schwarte has been legally blind since birth. His life is not completely enveloped in darkness, as he can see through “a little patch of light at the corner of my eye.” To him, colors are washed out, shapes are blurry. He walks with a long cane.
Born with LCA, Mr. Schwarte, of West Lafayette, Ind., had few options for treatment until recently.
Through a clinical trial being conducted at the University of Massachusetts Medical School, 12 people with LCA are undergoing surgery to have a malfunctioning gene in their eye replaced with a normal gene. It is the only clinical trial of its kind in New England, one of only a handful being conducted nationwide. While the procedure is not approved by the U.S. FDA, the first phase of trials established that the procedure is safe.
It is hoped that the trial will lead to a treatment for the estimated 20,000 to 40,000 people worldwide who have LCA. Mr. Schwarte has been coming to Worcester regularly since July, when he had the surgery. So far, he has seen a slight improvement in his peripheral vision, and that sight is slowly moving toward the center of his eye.
Dr. Shalesh Kaushal said that gene therapy, once it has been sufficiently tested, may one day be available to address any number of gene-related disorders and diseases.
Interestingly, said Dr. Kaushal, the retina's lack of an immune response works in its favor.
“When a foreign substance is introduced into human tissues and cells, it triggers the body's immune system,” he said. “Stimulation of the body's immune system can inhibit the effectiveness of gene therapy treatments and, in some cases can have adverse effects on the body and other healthy tissues. However, the retina lacks an immune mechanism, which makes treating eye diseases with gene therapy possible.”
During initial clinical trials at the University of Florida, Dr. Kaushal said all of the LCA patients saw improvement in their vision. One patient was able to read the digital clock in her parents' minivan for the first time.
“I remember one patient taking me aside and saying to me, ‘Doctor, I never knew the sky was so blue,' ” he said. “That was confirmation to me that we're on the right path.”
RESEARCH: Gene Therapy Cures Color-Blind Monkeys; could help LCA patients
By Brandon Keim, Wired.com
After receiving injections of genes that produce color-detecting proteins, two color-blind monkeys have seen red and green for the first time.
Except in its extreme forms, color blindness isn’t a debilitating condition, but it’s a convenient stand-in for other types of blindness that might be treated with gene therapy. The monkey success raises the possibility of reversing those diseases, in a manner that most scientists considered impossible, such as LCA.
“We said it was possible to give an adult monkey with a model of human red-green color blindness the retina of a person with normal color vision. Every single person I talked to said, absolutely not,” said study co-author Jay Neitz, a University of Washington ophthalmologist. “And almost every unsolved vision defect out there has this component in one way or another, where the ability to translate light into a gene signal is involved.”
The full-spectrum supplementation of the squirrel monkeys’ sight, described Wednesday in Nature, comes just less than a year after researchers used gene therapy to restore light perception in people afflicted by Leber Congenital Amaurosis, a rare and untreatable form of blindness.
Those results were stunning, but they were also achieved in children, whose still-growing brains can rewire themselves on the fly in response to new sources of visual stimuli. By contrast, adult brains were thought to be too fixed and static to develop new pathways.
Even if gene therapy healed their eyes, the signals would stall inside them. “I remember telling them that it was unlikely to work, but it was so exciting they had to try,” said David Williams, director of the University of Rochester’s Center for Visual Science. “It’s just an incredible milestone in the history of color vision. Looking back on this in 50 or 100 years, it will be a landmark paper even then.”
Neitz thinks the monkeys’ brains didn’t grow new neural circuits. “That’s the way we were thinking about neural plasticity before,” he said. Instead, their brains may have reconfigured themselves, “learning how to use the same old circuits in a new way when the information coming over the lines changed.”
“It’s incredibly cool. It demonstrates a fascinating plasticity in the brain,” said Jeremy Nathans, a Johns Hopkins neurologist regarded as the father of modern color-vision genetics. “We presume that we have that same kind of plasticity as well.”
If so, then gene therapies for severe human forms of color blindness could be successful. So could gene treatments for age-related macular degeneration. Ultraexperimental hacks that confer light- and color-perceiving powers on cells used in other aspects of sight would be that much closer to reality.
Neitz was quick to caution that “there’s a lot of steps before we actually cure a real blindness in people.” Except for the LCA trials, proposed gene therapies for blindness are still in animal-testing stages, if they’ve even progressed that far. The monkeys appear free of any side effects, but safety still needs to be proven.
Williams, however, was quicker to speculate. “Ultimately we might be able to do all kinds of interesting manipulations of the retina,” he said. “Not only might we be able to cure disease, but we might engineer eyes with remarkable capabilities. You can imagine conferring enhanced night vision in normal eyes, or engineering genes that make photopigments with spectral properties for whatever you want your eye to see.”
Gene Therapy Update
Dr. Jerry Chader
The good news is that gene therapy clinical trials are successfully underway. Gene replacement therapy can be useful in genetic diseases such as LCA when the mutated gene has been identified and when a significant number of retinal photoreceptor cells remain viable. Of course, genotyping – determining the affected gene – is also needed.Since we now know 15 genes whose mutations result in forms of LCA and preclinical studies have demonstrated the relative safety and efficacy of LCA gene treatment, three clinical trials began last year on the RPE65 form of LCA and several more are planned.
Three current trials:
Dr. Robin Ali and colleagues have begun the next step in their clinical trial to treat defects in the gene encoding the RPE65 protein. This is a dose escalation study in which they treat with increasing concentrations of the replacement gene. Results from the first phase of this clinical study have been published. Data from three young adults with early-onset LCA demonstrated that gene therapy improved retinal function. Completion of the current phase of the trial is anticipated in the second half of 2010. The group has recently received approval to include younger LCA patients and to treat patients with higher gene doses. The higher dose of vector has now been administered by subretinal injection at Moorfields Eye Hospital to two adult patients. The results to date with the higher dose are encouraging and tests in children are due to start in September. The London group is now starting to plan their next clinical trial for another form of LCA caused by defects in a different gene.
Dr. Sam Jacobson and his collaborators also have recently reported one year safety and efficacy results from their RPE65 clinical trial. Three young adults who had received the gene treatment “remained healthy and maintained previous visual gains” according to a publication in August. One of the patients reported actual improvement in vision that allowed for better performance in daily tasks. This improvement does not come suddenly but is a slow, learning process – for example, taking 12 months to be able to read dim numerals on an illuminated clock. Dr. Jacobson explains that, although the central macular area of the retina is normally used for visual focus, the patient may now be using another retinal area that had received the replacement gene and that this learning process takes time. It is expected that these patients will be followed for several years to come, monitoring for safety and improvement. With this good success, the ongoing trial will be expanded to include other RPE65 patients including children and to increase the dose of the administered gene.
Dr. Jean Bennett and her international group of colleagues treated their first patient in October of 2007. They report good results in this case and all 10 patients subsequently treated. Safety of the procedure has been established along with significant improvement in vision in some of the treated patients. Dr. Bennett reports that “all…(of the patients)… have asked to have their second eye injected”. It is important to note that four of the more recently treated patients are under 17 years old. This is a major step forward since, theoretically, the earlier the treatment, the better the chances are of good results.
Future Trials:
With this guarded success, following are examples of work from groups around the world who are planning clinical trials on other forms of LCA. First, a consortium of excellent investigators organized by Dr. Frans Cremers in the Netherlands is doing preclinical work on the Lebercillin gene whose mutation causes LCA5. To date, they have used sophisticated molecular biological techniques to construct a rodent model of LCA5 that demonstrates a retinal degeneration similar to that seen in LCA5 human patients. This transgenic model is now being used by Dr. Jean Bennett to see if gene replacement therapy can delay or even reverse the photoreceptor degeneration. Also in the Netherlands, Drs. Arthur Bergen, Jan Wijnholds and their colleagues are working on the CRB1 mutation. As the investigators report “CRB1 is a difficult nut to crack for gene therapy” due to significant technical problems encountered by Dr. Wijnholds and the fact that there is extensive damage to the mutant retina early on in the disease process. A third example is work being done by Dr. Tiansen Li and coworkers in Boston, MA. Dr. Li has done extensive work on mutations in the AIPL1 gene, both in pinpointing the basic role of AIPL1 mutations in LCA and in demonstrating that gene therapy can be used in an AIPL1 transgenic animal model to successfully rescue both rod and cone photoreceptor cells. Although Dr. Li cites several technical issues are yet to be worked out and toxicology studies are to be completed, they are pushing towards human trials for AIPL1 gene replacement therapy. In parallel, Dr. Li reports significant preclinical progress on gene therapy for RPGR, RPGRIP1 and TULP1 gene mutations. Finally, Dr. Anand Swaroop of the National Eye Institute at NIH is doing significant preclinical work on CEP290, probably the most common of thegene mutations that lead to LCA. He divides his work into three interrelated categories: 1) work on determining the function of the CEP290 protein in the photoreceptor cell 2) uncovering proteins that interact with CEP290 in the photoreceptor since these may modify the actions of CEP290 or themselves have mutations that could be disease causing and 3) work on gene replacement therapy in a CEP290-deficient animal model of LCA to prepare for human trials. It is hoped that some of the basic scientific work in the first two categories will lead to small molecule-based therapies up and above the gene therapy.
Dr. Jerry Chader, PhD, is Chairman of the FRR Science Advisory Board, as well as professor of Ophthalmology and Chief Scientific Officer at Doheny Retina Institute, University of Southern California, Los Angeles, CA.
BRAILLE BEATS
Intensive music camp in Michigan attracts many LCA teens for fun, week-long learning
What do you get when you take 25 very talented teenagers, who sing in angelic tones, who play violin or piano like Perlman and Bach, who share a week together being trained by musical professionals … and who all just happen to be blind?
That was the case at the “Braille Beats” summer music camp in Lapeer, Michigan this past August, held since 2000 at the Lions International Bear Lake Camp for physically challenged youth.
The “Braille Beats Fine Arts Program” is a 10-day camp for blind students aged 9 through high school, but it also is more than just music.
While focused on music, art, yoga and dance, the program is equally attentive to advancing independence skills such as mobility, personal care, organization, social, assistive technology, career exploration and self determination.
“I look forward to these 10 days more than anything else,” said Abby Bolling, a 15-year-old from Cincinnati who has LCA.
Music Braille is a part of the overall curriculum and is taught by a blind vocalist. The program has one half day music, one half day art, movement such as yoga and dance, and is interlaced with independent living skills such as personal care, organization, navigation, social, career exploration, self determination etc.
The music program interweaves music theory, keyboarding, composition, rhythm and ear training, music notation for Braille music, and vocal with each student individual and ensemble work.
Guest performers and presenters round out the evenings. The program includes a fun talent night during the week and ends with a more formal Celebration event including a music recital and art exhibit.
“Braille Beats was a great experience for several reasons, “ said Emily Pennington, 15, who has LCA and joined six other friends from Cincinnati at the camp for the second year in a row. “For one thing, it showed me how much I really did enjoy playing music with my friends. It helped me to strengthen old friendships and form new ones, because we were all connected by our love of music.”
Their staff is immensely talented. Susan Gardner is Program Director and one of the founders of Braille Beats. She teaches piano privately while also playing professionally in the Detroit area.
Steve Hornbeck plays professionally in the Detroit area. As Music Director, he oversees the music program including theory, form and analysis, composition, performance and other music projects which vary from year to year.
Kay Rowe is Art Director and Yoga Instructor. Mrs. Rowe introduces the students to a variety of media and techniques while encouraging imagination and creativity.
The study of Braille music is an integral part of the day, taught by
Brunhilde Merk-Adam, another of the founders of Braille Beats. Ms. Merk-Adam provides administrative support and serves as acting director of the independent living skills component of the program.
Other instructors include Cheryl Wade in Braille Music, Roger Heiple in Jazz History, Ruth Lapeyre in Voice & Choir, and Dan Kish in Navigation and Echolocation Additional instructors and Guest Presenters are invited to address specific topics and vary from year to year. Every effort is made to provide role models and mentors who are blind or visually impaired.
Each year the Art program focuses on a “theme” - based on a geographic area or time/art period. Students experience a variety of art media and techniques by completing a range of theme-related projects while learning about the designated culture. An autumn art exhibit is another highlight of the program.
But the real highlight is the presentation concert on the final day, as students get to show their talents to family and friends who have made the trip to Michigan. “The kids are really excited about the concert,” said Diane Bolling, Abby’s mom. “This is really a great week for all of them.”
Katie Shelton, Brooke Banner, Lillie Pennington, Abby Bolling, Emily Pennington, Brady Banner and Kyra Sweeney were a few of the teenagers with LCA who took part in the 2009 Braille Beats camp.
About ‘Braille Beats’ Braille Beats Fine Arts Program
13228 Lashbrook Lane E. • Brighton, MI 48114
http://www.braillebeats.com/
Email: braillebeats@gmail.com
Phone:248-627-2260 or 734-223-9591
