thegalactosemiapodcast.com - support the show; ad-free and early access episodes

To contribute to the new parent episode, send an email to thegalactosemiapodcast@gmail.com 

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.70013

GLOW for Galactosemia - glowforgalactosemia.org

In 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 research

• The founding and mission of GalNet: A global research network for galactosemia

• Why newborn screening varies across countries and its impact on early diagnosis

• The complexity of galactosemia

• Zebrafish as a research model for galactosemia and what they reveal

• Exploring pharmacological chaperones as a potential treatment

• The role of GALK1 inhibitors and their potential in managing galactosemia

• The promise and challenges of gene therapy for metabolic disorders

• The importance of multidisciplinary collaboration in rare disease research

• How the scientific community and families can work together to push for progress

Guest 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.