The grant, provided by the Spinal Muscular Atrophy (SMA) Foundation, will fund activities by Columbia’s newly established Center for Motor Neuron Biology and Disease. It is a unique research center committed to focusing on the biology of the motor neuron and two diseases caused by motor neuron degeneration: SMA and amyotrophic lateral sclerosis.
Little was known about the causes of SMA as recently as a decade ago, but this changed following the discovery of the gene that causes the disease. Researchers now hope the funding will help rapidly advance the knowledge of how this gene causes motor neurons to degenerate, and turn this into improved clinical care for patients.
The gift, which will be distributed over five years, is the largest ever made by a private foundation for SMA research.
“We have known about SMA for more than a century; however, there remain significant gaps in our knowledge about this disease. We need to fill in these gaps in order to develop effective treatments,” said Dr De Vivo, director of the SMA Clinic at Columbia University Medical Center.
“Although it is the most common genetic cause of infant death and is the second most common autosomal recessive disease – a disease caused by a mutation of a single gene passed on by both parents – SMA has not received as much attention as many other less-common genetic disorders.”