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Imagine for a moment what life would be like if you started going blind. American athlete Michael Stone had to face that from a young age. Now ‘legally blind’, he chooses to set his sights above vision-imposed limitations. He races in gruelling triathlons to raise money in support of research into cures for genetic eye disease, advocates for and counsels people and families similarly affected. He calls himself the ‘Forrest Gump of the vision world’ because technically, he shouldn’t have been able to do many of the things he has done. You might want to call him a visionary. MS
By Jennifer Brown
“When I ride a bike or I’m running, I use my feet; I use every piece of information I can get through my other senses,” Stone says.
“I like to think of myself as the Forrest Gump of the vision world because technically, I shouldn’t have been able to do many of the things I was able to do.”
Two characteristics shine through conversation with him and infuse his approach to life: tenacity to work around his vision-imposed limitations, and a deep desire to make things better for others affected by blinding eye diseases.
When he races, he raises money for research into genetic eye disease; he is a counselor and advocate for people with blinding eye diseases; His book, Eye Envy: Perspectives Into Vision Loss, highlights inspirational stories of people affected by eye disease.
Stone co-founded the Race to Cure Blindness, a fundraising programme for the US-based Foundation Fighting Blindness. Despite helping to advance research for blinding eye disease for years, Stone did not have a definitive diagnosis for his own condition. In 2003, he was told he had cone rod dystrophy, a retinal condition caused by many different gene mutations, but did not know which gene was affected in his case.
In the past year, through coincidences and collaboration with researchers at the University of Iowa (UI) in Iowa City and Columbia University in New York, Stone and his family now have answers.
It all started with a chance conversation that reconnected Stone with his old school friend, Dr Alex Bassuk, now a paediatric neurologist with UI Children’s Hospital and genetics researcher at Carver College of Medicine.
“I grew up with Michael, he is good friends with my sister,” Bassuk says. “They were talking about his disease, he mentioned it was genetic, and my sister said, ‘Oh, my brother does genetics and even works on eye diseases. You should talk to him’.”
Stone and his siblings met Bassuk and Dr Vinit Mahajan, an ophthalmologist and expert in inherited eye diseases at Iowa University in December 2012. The scientists took DNA samples and Mahajan conducted thorough eye exams. The final link was Mahajan and Bassuk’s connection with Dr Stephen Tsang, a physician-scientist and expert in retinitis pigmentosa at Columbia University in New York. This provided a critical opportunity to gather several generations of Stone’s family in one place for testing.
Genetic testing for disease is sophisticated, but Tsang says the old school approach of examining family members — affected and unaffected — is critical in diagnosing an inherited condition.
“Michael’s family is scattered across the country, so no one had examined the family all together. With a condition you think is inherited, that’s usually valuable,” Mahajan adds.
Stone, his siblings, and parents went to Columbia University for clinical exams and blood draws, to obtain samples for next-generation, whole-exome DNA sequencing. Mahajan went with the family. “(Vinit) kind of held our hands through the experience,” Stone recalls.
With the results of the exome sequencing in hand, the three scientists combed through the list of possible gene variants, seeking one that fit the clinical profile they’d created through detailed examination of the Stone family.
Bassuk recalls the excitement of the moment as the three colleagues from their separate offices—two in Iowa, one in New York—emailed back and forth, then hit on a variant in the RPGR gene and realized it was a perfect fit.
About a year after their first meeting, the researchers were able to show that the family’s inherited eye disease was caused by a new variant in a gene called RPGR. Mutations in the RPGR gene are already known to cause retinitis pigmentosa. The new variation causes x-linked retinitis pigmentosa, meaning the disease is passed on through the maternal line. The finding was published in January in the British Journal of Ophthalmology.
Gumshoe detective work
“It has been a combination of the gumshoe detective in the field tracking down clues and the forensic pathologist in the lab – a high-tech, low-tech combination,” Mahajan says.
Several hundred genes can cause retinal degeneration, which affects millions across the globe. There currently is no treatment for the newly discovered variant, but identifying the specific gene may ultimately lead to a treatment. The Stone family has provided philanthropic support through the University of Iowa Foundation to advance the team’s research.
Stone will compete in his 12th Iron Man race in New Zealand in March, and says: “There is something liberating about knowing what it is that you have— to take a very uncertain world and create a little bit of certainty. It reignites a purpose into your life, and reignites the concept of hope.” Newswise
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