Research Roundtable Summary: April 22

Science Sandra

Hello, in this issue of our science space, I want to highlight our second virtual research Roundtable of the Glut1 Deficiency Foundation, which took place on April 22, 2022. The purpose of the meeting was to provide a forum for scientists and clinicians to share updates on current projects, engage in discussions, and foster collaborations so that we can achieve our dream that Glut1 Deficiency will be easy to diagnose early, treat effectively, and cure completely.
The meeting started with a brief summary of projects currently taking place in the foundation, such as our research compass, the natural history study which will be launching this summer, and research tools available, such as biorepositories and mouse models. The meeting had 35 attendees including researchers, dietitians, clinicians, and three excellent speakers:
Dr. Christina Gurnett is an MD, PhD, and a Professor of Neurology at Washington University School of Medicine in St Louis. Her research is focused on discovering the genetic basis of musculoskeletal and neurological disorders and understanding how human genetic variation contributes to disease. She spoke about the project she is working on to better understand the mutations found in the SLC2A1 gene that cause Glut1 Deficiency so that patients and families can know what to expect and medical professionals can hopefully treat them in easier and better ways.
Dr. Pierre Magistretti is an MD PhD, and a distinguished professor at King Abdullah University of Science and Technology. In addition, he is the Chairman and Founder of Gliapharm. His research interests include the cellular and molecular bases of brain energy metabolism and brain imaging, and the behavioral, cellular and molecular determinants of neuronal and glial plasticity. He spoke to us about a new treatment being developed for Glut1 Deficiency. We will hear more details during the scientific sessions at our conference in July.
Dr. Serena Silver has a PhD in Biology and she is the Vice President for Discovery Biology and Technologies at Fulcrum Therapeutics. Dr. Silver has expertise throughout the drug discovery process, from target ID and validation with RNAi, including CRSIPR and chemical genetics, to cell and cancer biology, model building, and assay automation. She spoke about the Glut1 Deficiency program at Fulcrum.
The meeting ended with small breakout rooms, where the participants could meet and discuss with our distinguished speakers. We are very excited to see how these scientific gatherings have sparked new international collaborations in order to learn more about different aspects of the condition. It is very encouraging to see how researchers are getting together to help advance our vision of a brighter future for our community.