March 5, 2013
The following news release is shared on behalf of the Choroideremia Research Foundation and highlights work being done by Aquarian Charter School and Huffman Elementary students and staff.
For Inquiries on this News Release, Contact:
Choroideremia Research Foundation
Choroideremia Research Foundation
23 East Brundreth Street
Springfield, MA 01109-2110
130 Alaskan Triathletes heading to Lavaman -- Some with a Special Mission: Saving Sight.
Anchorage, Alaska, February 20, 2013 – A large group of Alaskans are once again heading to Hawaii to compete March 24th in the Lavaman Olympic Distance Triathlon: 1.5K swim, 40K bike, 10K run. Each year over 100 local athletes comprise about 10% of the field at the race competing at all levels from first timers to dominating the podium with top racers in every age group. The MC has been heard asking, “What is in the water in Alaska?!”
This year Jodi and her husband Sean McLaughlin, Lavaman veterans, have a special mission: To raise awareness and funds for the Choroideremia Research Foundation. Choroideremia (CHM) is a hereditary degenerative eye disease that attacks the peripheral vision and slowly erodes it until total blindness. Jodi carries this rare disease and may have passed it on to their daughters. Her brother has a 3 year old carrier daughter of his own, and while he still has functional vision, loses more each day.
“’Saving Sight is our Vision’, says Jodi, “the Foundation has funded researchers over the past 10 years who intend to begin gene therapy clinical trials within months for the first ever treatment of Choroideremia, which will halt the disease progression in its tracks.”
Danny Boren, owner/co-founder of the first US-based zipline co., and his wife Sharyl of Maui will also be competing. Danny is now legally blind and this will be his first triathlon. He quit driving three years ago because of deteriorating peripheral vision, and while he continues to lose more each day, currently maintains enough central vision to swim, bike, and run. However, the race will be full of unique and special challenges for him that other racers won’t encounter. The Borens have teamed up with the McLaughlins, and they are committed to being a part of the solution for this devastating disease.
At Jodi and Sean’s daughters’ school, Aquarian Charter School, and at Huffman Elementary where local top triathlete Lori Deschamps is a teacher, the children are launching a “Change for ‘Quarter-emia’” drive, because every little bit helps. These initiatives came about when 4th and 1st grade daughters Molly and Megan told their student council and friends about the disease and the fact that the doctors know what to do and how to fix it. The science is ready and been proven effective, offering hope where there never has been before, but funding and the FDA process delay treating this cause of blindness. Lori took the ‘tri bike by the aero bars’ when she received one of the Charity Race Slots granted by the race management, and inspired her students to make a difference. So far, the Borens and McLaughlins have raised over $10,000 to help bring clinical trials to fruition this year, but there goal is at least $500-$1000 per 32 Lavaman Miles, or $16,000-$32,000. They are literally: Racing the Clock.
For more information on the Borens and McLaughlins Choroideremia and Lavaman quest or to make a donation, visit http://choroideremia.org/?page_id=2129
Choroideremia (CHM) is a rare inherited disorder caused by a specific genetic defect that leads to degeneration of cells in the eye that are essential to sight. CHM is genetically passed through families by an X–chromosome linked genetic defect. Because of this, except in rare cases, only males have loss of sight. A father will not pass the gene to his sons, but his daughters will be carriers. Mothers can be carriers and have a 50 percent chance of passing the disorder to their sons, who will suffer sight loss, or to their daughters who will be carriers.
While CHM’s progress varies among individuals and even within families, loss of night vision may occur in childhood, loss of ability to drive typically occurs in the twenties, legal blindness in the thirties, significant loss of peripheral sight and dependence on mobility aids in the forties, functional blindness in the fifties, and total blindness in the sixties.
About the CRF:
The Choroideremia Research Foundation is a registered 503(c) tax exempt nonprofit organization created to raise funds in support of scientific research leading to a treatment or cure of Choroideremia. Since its founding in August of 2000, the CRF has established a US-based community and network of support for infected individuals and their families. As well, the CRF is the major source of research funding for a cure or treatment for Choroideremia.
About CRF-Sponsored Research:
Dr. Jean Bennett is a professor at the F.M. Kirby Center for Molecular Ophthalmology at the University of Pennsylvania. Her laboratory has worked to develop a genetic therapy for Choroideremia. This technique uses an adeno-associated virus encoded with the healthy CHM gene to introduce the healthy gene into affected patients, thereby stopping the progression of the disease. She continues to perform pre-clinical research on this genetic therapy, and her goal is to obtain clearance from the FDA to begin a clinical trial for CHM in 2013. Dr. Bennett can rely upon her experience with the ongoing Stage III clinical trial for Leber’s Congenital Atrophy which uses a similar treatment and has met with great success.