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“Sink or Swim” (Base Pairs Episode 5)

When he was just 27 years old, Adrian Krainer, now a professor, was offered the opportunity to run his own lab. Now, research from his lab has contributed significantly to the development of what promises to be the first drug therapy for a deadly disease affecting infants. (The black-and-white image below is of Krainer at a meeting in 1993.)

For most scientists, the path to running a lab is a long one. It can require well over a decade of school and training. This episode of Base Pairs is about a scientist whose path to scientific independence was about as short as possible. Professor Adrian Krainer was offered the opportunity to run his own lab when he was just 27 years old as part of a brand new “Fellows” program—which allowed him, in his words, to “sink or swim.”

These kinds of programs are rare, as investing in young, relatively inexperienced people is risky. Krainer’s story makes us question what we’re risking by not investing in more young, dedicated, passionate scientists. Although no one knew it years ago, we can say today that dramatic improvements in the lives of children suffering from a deadly disease called spinal muscular atrophy stood to be affected by Krainer’s career. Research from his lab has contributed significantly to the development of what promises to be the first drug therapy for this disease, if an application now before the FDA is approved.

UPDATE: FDA approval of life-saving SMA drug is hailed by its researcher-inventor at CSHL

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Extras for Episode 5:

Spinal muscular atrophy (SMA) arises from an error in a curious, but fundamental process called RNA splicing. The video below is all about how that process works.

RNA splicing goes awry in patients with SMA. This video (below) explains what goes wrong, and how a new drug known as nusinersen—which research from Adrian Krainer’s lab was key in developing—may help reverse the disease’s symptoms.

One of the co-discoverers of RNA splicing, Richard Roberts, actually worked at CSHL for a number of years, and later won a Nobel Prize for this discovery—a discovery made possible by the cold-causing virus whose likeness adorns this gazebo on campus. LabDish recently talked with Roberts about how the discovery of RNA splicing came about.

Photo credit: Gaurang Trivedi
Photo credit: Gaurang Trivedi

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