Sanofi Awarded New Funding to Monani Lab to Study Glucose Transporter-1 Deficiency Syndrome
Glucose Transporter-1 deficiency syndrome (Glut1 DS) is a potentially devastating pediatric neurodevelopmental disorder that is thought to affect as many as 12,000 patients in the US alone. Although the underlying genetic defect – haploinsufficiency of the SLC2A1 gene – in Glut1 DS was identified almost two decades ago, very little is known about the pathology associated with the disease or precisely how reduced Glut1 protein perturbs brain function. Patients afflicted with the disorder typically suffer intractable seizures, cognitive dysfunction and often severe movement disorders. Effective treatment options are sadly lacking. In 2015, Umrao Monani, associate professor of pathology and cell biology (in neurology) was one of two Columbia faculty selected to receive a $100,000 Sanofi Innovator Award to explore novel therapeutic strategies for Glut1 DS. This led to exciting findings suggesting that repletion of the Glut1 protein might be an effective way of treating the disease (Tang, M. et al, 2017, Nat. Commun. 8:14152), work which serves as the basis of additional funding, in the amount of $502,112, that the Monani lab has received from Sanofi to study clinically relevant mechanisms associated with Glut1 DS. Dr. Monani’s work will be carried out in close collaboration with Darryl De Vivo, professor of pediatrics and neurology at Columbia.