Inside a Galactosemia Research Lab - ft. Dr. Judith Fridovich-Keil

thegalactosemiapodcast.com - support the show; ad-free and early access episodesLinks & Resources Mentioned:Check Rare Channel Video: https://youtu.be/baG02cOV7KQ?si=QjtM2DpU4uxc4UQwContact Information for Dr. Judy’s Research Participation: [email protected] Paper - “Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia”: https://pmc.ncbi.nlm.nih.gov/articles/PMC5656392/pdf/nihms913930.pdfIn this inaugural episode, we sit down with Dr. Judith Fridovich-Keil, a professor of human genetics at Emory University School of Medicine and a leading researcher in the field of galactosemia. With over 30 years of experience studying this rare genetic condition, Dr. Fridovich-Keil shares invaluable insights about galactosemia and its impact on patients and families.Key Topics Discussed:The crucial difference between galactosemia and lactose intoleranceHow to effectively explain galactosemia to othersThe importance of proper diet management and label readingHistorical development of newborn screening for galactosemiaCurrent research developments and promising treatmentsThe variable nature of galactosemia outcomesThe role of early intervention in improving outcomesResearch Highlights:Discussion of the 2017 study on dietary restrictions and outcomesInsights from animal model researchThe importance of longitudinal studies in understanding galactosemiaGet Involved: Dr. Fridovich-Keil's lab is currently conducting observational studies on galactosemia. Families interested in participating can email her at [email protected] to learn more about the study opportunities.Guest Bio: Dr. Judith Fridovich-Keil holds a Ph.D. in Biology from MIT and completed her postdoctoral work at Harvard Medical School. She currently leads the Fridovich-Keil Lab at Emory University, where she has been studying galactosemia since 1991.00:00 Welcome to the Galactosemia Podcast06:03 Introducing Dr. Judith Fridovich-Keil07:09 Describing Galactosemia to the Unfamiliar07:52 The Importance of Accurate Information18:32 Judy's Background and the Evolution of Galactosemia Research34:34 The Role of Animal Models in Research45:00 Current Studies and Future Directions49:37 Participating in Galactosemia Research55:34 Personal Story and Study Participation56:32 Discussing the Largest Study on Galactosemia58:00 Dietary Restrictions and Outcomes01:06:24 Understanding Penetrance and Genetic Risks01:13:46 Early Intervention and Historical Data01:18:02 Promising Treatments and Research01:23:34 Learning from Other Rare Diseases01:29:41 Episode Recap and Key Takeaways