What they did: In ALS, the protein TDP-43 builds up in the wrong part of the neuron. To find out how this plays a role in the disease, the researchers searched for all the genes that are influenced by TDP-43.
What they found: TDP-43 affects the gene Stathmin2, which is important in neuron outgrowth and repair. The biological mechanism is specific to human biology, so the researchers were able to identify it because they used patient-derived stem cells rather than animal models.
Why it matters: The discovery opens doors to improving diagnostics and developing a new therapy for the majority of ALS patients.
Medicine is at a turning point, where game-changing drugs like aspirin and antibiotics are meeting the new disrupters: gene and cell therapies. We are on the cusp of a major change as scientists reinvent the landscape of therapeutics, and think about using old drugs in new ways.
Next month's Science by the Pint event features Vijay Sankaran, HSCI Principal Faculty member. Over drinks, Dr. Sankaran and scientists in his lab will chat about their research into the genetics of the blood system. The event is geared toward a general audience, and all are welcome to attend.