The promise of curing genetic diseases by replacing damaged genes with healthy ones is slowly becoming a reality. One recent story is the development of therapy in humans to reverse a form of childhood blindness called Leber congenital amaurosis, or LCA.
OregonLive reports on the story of Alexe Webb who, soon after birth, was diagnosed with LCA the most common cause of inherited blindness in children. Her doctor, Dr. Richard Weleber, said “With this trial, she has the opportunity to have much better vision. We hope the treatment is very durable, that it will last for many decades, even for life.”
As detailed at the National Eye Institute web site:
The groundbreaking clinical trials to restore vision in patients with LCA rest on 15 years of basic research with animals. Long before the gene transfer procedure could be tested in people, four critical milestones had to be met: the discovery of the RPE65 gene; creation of a mouse model that illustrates the gene’s functions and what happens when it’s missing; development of a safe way to carry healthy replacement genes to the target within the eye; and studies of the procedure in a large animal model — dogs.”
The report continues:
Dogs carrying a nearly identical mutation to Alexe’s were the first test subjects. Within two weeks of treatment, three nearly blind dogs were able to navigate with little problem, Dr. Jean Bennett, a professor of ophthalmology at the University of Pennsylvania Medical School in Philadelphia told the Journal of the American Medical Association in October. The effects of a single injection persisted for more than 10 years in the first dog treated. Researchers learned that retinal cells may be ideal targets for gene therapy because they don’t divide much, allowing replaced genes to persist.”
This isn’t the first time that this use of gene therapy to treat LCA has caught our attention, back in 2009 Anna Matynia wrote a piece which highlighted the value of the briard dog to this research. All in all it is a great example of how gene therapy is starting to change the face of medicine.
In other news we reported last week on how the animal rights zealots at PCRM were willing to endanger the lives of preterm babies by attacking an important training program at the University of Washington. We were pleased to note an editorial in the Seattle Times which comes down firmly on the side of the University of Washington, the Seattle Times clearly recognizes that Dr. Dennis Maycock and his colleagues at the University of Washington are the real responsible and ethical physicians in this debate.
The problem of specialist pediatric training programs coming under attack from AR activists is not however limited to Seattle, PeTA are attempting to close down a similar training program at Primary Children’s Medical Center (PCMC) in Salt Lake City. The Daily Herald has reported how PeTA have resorted to false claims that PCMC have conceded to their demands. Once again doctors have had to confront misleading animal rights propaganda, with Dr. Bonnie Midget of PCMC pointing out that:
There is no simulator for a 2-pound premature infant,We would love it if someone would make one.”
We at Speaking of Research applaud the responsible physicians at the University of Washington and PCMC who brave threats and harassment to stand up for the welfare of their youngest patients.
Dario Ringach and Paul Browne
Speaking of Research 