Karen Chen, PhD, Chief Executive Officer of the Spinal Muscular Atrophy (SMA) Foundation, discusses how the foundation is helping the SMA community expand its research.
Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The absence of the SMN protein leads to cellular imbalances in motor neurons that in turn causes the motor neuron endplates to not properly connect to muscle and the motor neurons die.
As Dr. Chen explains, the SMA Foundation was founded by parents who had backgrounds working with drug companies. As such, it has always been primarily focused on accelerating the development of SMA therapies. As Dr. Chen notes, the SMA Foundation worked with all of the companies responsible for the drugs currently approved for SMA. Dr. Chen also notes that the foundation, as with the larger community focused on SMA research, has shifted toward learning about and developing treatments that reverse musculoskeletal damage and regenerate nerves in SMA patients.
To learn more about SMA, visit our SMA Learning Center here.