New Treatments, Big Questions: What’s next for Galactosemia? Feat. Dr. Estela Rubio Gozalbo

thegalactosemiapodcast.com - support the show; ad-free and early access episodesTo contribute to the new parent episode, send an email to [email protected] Details: Video recording in a quiet room, under three minutes, your message to a parent that has just received a new galactosemia diagnosis. Links & Resources Mentioned:Recent Research on Galactosemia Therapies: https://onlinelibrary.wiley.com/doi/10.1002/jimd.70013GLOW for Galactosemia - glowforgalactosemia.orgIn this episode, Dr. Estela Rubio-Gozalbo, a leading expert in pediatric metabolic diseases and a driving force behind the GalNet research network, shares her journey into metabolic research, the role of GalNet in uniting scientists globally, and the latest advancements in galactosemia studies.We dive deep into newborn screening disparities, the complexities of galactosemia beyond diet management, and promising therapeutic approaches, including zebrafish models, pharmacological chaperones, and potential gene therapies. This episode highlights why collaboration and continued research are crucial in the fight against galactosemia.Key Topics Discussed:Dr. Rubio’s path into pediatric metabolic disease researchThe founding and mission of GalNet: A global research network for galactosemiaWhy newborn screening varies across countries and its impact on early diagnosisThe complexity of galactosemiaZebrafish as a research model for galactosemia and what they revealExploring pharmacological chaperones as a potential treatmentThe role of GALK1 inhibitors and their potential in managing galactosemiaThe promise and challenges of gene therapy for metabolic disordersThe importance of multidisciplinary collaboration in rare disease researchHow the scientific community and families can work together to push for progressGuest Bios: Dr. Estela Rubio-Gozalbo is a professor of metabolic diseases and the head of the Pediatric Metabolic Department at Maastricht University in the Netherlands. She is the chair of the European arm of GalNet and a leading researcher in galactosemia, focusing on metabolic pathways, therapeutic interventions, and newborn screening advocacy. Her work has contributed to groundbreaking insights into the disease, with a mission to improve outcomes for individuals living with galactosemia worldwide.