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Juergen Scharner

Stoke Therapeutics

One of Juergen Scharner’s passions is underwater photography. His favorite subjects are sand tiger sharks off the beaches of North Carolina, far from his first scuba diving experiences deep in snowmelt-flooded mountain lakes of his native Austria. That’s where a high school teacher sparked his interest in diving while also bringing physics lessons alive. 

Applying abstract theories to real life, whether underwater or deep within the genetic machinery of disease, has always been Scharner’s bent. Rather than join academia after studying or conducting research in London, Hong Kong, Singapore, and Cold Spring Harbor, N.Y., he has become a scientist at Stoke Therapeutics in Bedford, Mass. That’s where he searches for new targets for RNA-splicing to restore function lost to genetic mutations, applying research that could potentially improve the lives of people with severe genetic diseases. 

During RNA- splicing, sections of genetic material can be skipped before being translated into proteins. That can exclude sections of DNA that don’t code for proteins, keeping only exons that do produce them. Or, Scharner realized while a graduate student at King’s College, RNA-splicing can also skip over stretches that harbor harmful mutations.  

For his Ph.D. research, he zeroed in on exon skipping in people who have Emery-Dreifuss muscular dystrophy, which causes weakness and wasting in the muscles, including the heart.

Scientists who had tried exon-skipping before in other diseases only disrupted protein production, but Scharner’s work showed the possibility of restoring the missing protein these patients need.

“That’s where I discovered how powerful splicing can be,” he said.

Now Scharner is involved in identifying where RNA-splicing might be most effective, working at the proof-of-concept stage in a variety of genetic diseases.

“That’s been the theme throughout my career. I’m always more interested in the applied side of things rather than the very foundational science.”

“That’s been the theme throughout my career,” he said. “I’m always more interested in the applied side of things rather than the very foundational science.”

Elizabeth Cooney