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GLUT1 deficiency syndrome is a rare genetic disease caused by mutations in the SLC2A1 gene. This gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). It is responsible for transporting glucose to the brain. When the brain is deprived of its main source of fuel, brain development and functioning are affected. Patients suffer from epileptic seizures, motor disorders and cognitive defects.
The Associazione Italiana GLUT1 Onlus is committed to helping all those affected by this disease.
Your contribution is very important to us because it allows us to carry on supporting scientific research projects. These projects are the only means for giving us hope that in the future there will be a definitive cure to this disease.