Dr. Steve Rose
As the Foundation Fighting Blindness’ chief research officer, Dr. Stephen Rose – who prefers to be called Steve – is highly respected for his expertise, intelligence and tireless commitment to finding treatments and cures for vision-robbing retinal diseases. But it’s his accessibility and down-to-earth nature that stand out for many of his peers and Foundation members.
“With Steve, the door is always open. You can walk into his office at almost any time with a problem or an issue, and he is ready and willing to help,” says Dr. Brian Mansfield, the Foundation’s deputy chief research officer. “He also has a phenomenal memory and knowledge base to draw from. And in the event he doesn’t have an immediate answer for you, he’ll pick up the phone and reach out to his many friends and collaborators throughout the science community. The man is incredibly well-connected.”
Steve, who has a Ph.D. in microbiology and joined the Foundation in 2004, supervises its research efforts, which include awarding grants and facilitating clinical trials. He also manages the Science department and works closely with the Foundation’s Scientific Advisory Board, Board of Directors and Science Liaison Committee. Before joining the Foundation, he served more than 14 years with the National Institutes of Health, where he led several divisions, including genetics, clinical research and transplantation studies.
He’s also a member of many prominent scientific and research organizations, including: the Health Research Alliance, the American Society of Gene and Cell Therapy, the Association for Research in Vision and Ophthalmology and the American Association of Immunologists.
Despite his background, Steve has a knack for explaining scientific concepts and retinal research in terms that everyone understands, making him a popular speaker at Foundation and retinal-field events. Bill Schmidt, the Foundation’s chief executive officer, appreciates Steve for, among other things, his enthusiasm.
“There’s no one more passionate about retinal research,” Bill says, “and he does all he can to ensure that the Foundation supports only the best projects — those with strong sight-saving potential. There’s no better advocate for those who’ve lost or are losing their sight, and our recent success in driving research into the clinic is great evidence of that.”
The following articles were authored by Dr. Steve Rose
USH2A is a target for retinal-disease researchers, because mutations in the gene are the most common cause of Usher syndrome type 2, which causes combined vision loss from retinitis pigmentosa (RP) and hearing loss from inner ear dysfunction. Also, USH2A mutations are a leading cause of RP without hearing loss (i.e., non-syndromic).
A major challenge in providing prognoses for USH2A patients — and designing clinical trials for potential therapies — is the wide variability in the severity and rate of progression of the disease and its symptoms. Researchers have identified hundreds of USH2A mutations — misspellings in the patients’ genetic code. Some of these defects lead to RP only. Others cause Usher syndrome.
Inherited retinal conditions such as Stargardt disease and retinitis pigmentosa (RP) run in families. The diseases in some families span several generations with dozens of affected members. In other cases, a disease may only affect one or more siblings within a single generation. Researchers have understood the nature of these different inheritance patterns fairly well for several decades.
The annual meeting of the Association for Research in Vision and Ophthalmology (ARVO) in Seattle won’t start for another three days, but already there’s exciting research news to report. Five of six patients in NightStaRx’s choroideremia gene-therapy trial at the University of Oxford in the United Kingdom, which began in 2013, continue to benefit from the treatment.
It’s apropos that Rare Disease Day 2016 will be held on the rarest day on the calendar—Leap Day, February 29.
However, collectively, rare diseases are not uncommon. About 30 million Americans, nearly 10 percent of our population, are affected by one of 7,000 rare diseases. They’re an important public health issue, making it incumbent upon us to work hard to eradicate them.
We’re approaching a critical milestone in the fight against blinding retinal diseases, and it has the potential to tremendously boost and accelerate the advancement of virtually all gene therapies in development for dozens of inherited retinal diseases.
Sometime in 2016, Spark Therapeutics will request marketing approval from the U.S. Food and Drug Administration (FDA) for its landmark gene therapy for retinal conditions caused by mutations in the gene RPE65, namely certain forms of Leber congenital amaurosis and retinitis pigmentosa.
While we often think of the retina as that magical piece of tissue lining the back of the eye that makes vision possible, the brain is also an essential partner in the visual process. When light comes into the eye and is converted to electrical signals, those signals are sent through the optic nerve to the back of the brain, where they are transformed into the images we see. When children are born, pathways between the retina and the brain are in place, and, with increased interaction with the world, they become stronger over time.
I’ve known Dr. José Sahel for more than a decade, and every time I’m with him, I’m impressed by his humility and graciousness. He’s not much for rhetoric or small talk, but is always polite and insightful. Dr. Sahel is also very soft-spoken, but I think that’s his secret weapon. He forces you to really listen to what he’s saying.
I just returned from the annual meeting of the Association for Research in Vision and Ophthalmology (ARVO), the world’s largest eye-research conference, held this year in Denver. It attracted more than 11,000 scientists and physicians, including many of the 187 retinal researchers funded by the Foundation. The FFB science team and I worked feverishly to learn as much as possible about the latest news from the retinal-research front. It was truly exhilarating—albeit, at times, overwhelming.
At first blush, gene therapy for retinal diseases seems so simple: Inject a tiny drop of liquid containing good copies of a gene to replace the bad, and you’re home free. Vision is saved, and, in some cases, it’s even restored.
But the reality is: Developing gene therapies that are safe, effective and long-lasting is very challenging in our world of genetically diverse retinal degenerations. Scientists have to design a delivery system that gets the genes to the right types of cells across the entire retina, but without affecting other cells.