Right before Sean Wang started at Harvard Medical School, his cousin was diagnosed with Leber’s congenital amaurosis, or LCA, a rare, inherited form of childhood blindness. There was early hope that Wang’s cousin might benefit from an experimental gene therapy, but she was later excluded from a clinical trial because the specific gene mutation that caused her form of LCA was not amenable to treatment.
That’s when Wang decided he would use his time in medical school doing research to find a cure for his cousin and other kids like her.
There are thousands of different gene mutations that cause LCA — it’s really more of an umbrella term than a specific disease — so trying to make gene therapies for all of them would be impractical, if not impossible.
“But what if there was a way to develop a kind of therapy for these patients that didn’t take their gene mutation into account? Could we treat them effectively regardless of their mutation? These were big questions that I started with, and it’s been my work for five years now,” said Wang.
Working alongside colleagues in a Harvard research lab, Wang helped discover a common disease pathway, downstream from genetic mutations, that has the potential to help all patients with LCA. Mouse experiments have revealed some promising therapies, including one that’s been taken up by a pharmaceutical company for further development.
Wang has spent the past few months working as a medical resident in Boston, where he’s helping to take care of Covid-19 patients. Next summer, he’ll move to Stanford University to begin a combined residency and postdoc in ophthalmology. He’s joining a research lab that will mine the non-coding or “dark” genome for mutations that could potentially open up new ways to treat — or even cure — diseases of the eye.
— Adam Feuerstein