Explorez tous les épisodes du podcast The Galactosemia Podcast
| Titre | Date | Durée | |
|---|---|---|---|
| Inside a Galactosemia Research Lab - ft. Dr. Judith Fridovich-Keil | 22 Jan 2025 | 01:41:54 | |
thegalactosemiapodcast.com - support the show; ad-free and early access episodes Links & Resources Mentioned: Check Rare Channel Video: https://youtu.be/baG02cOV7KQ?si=QjtM2DpU4uxc4UQw Contact Information for Dr. Judy’s Research Participation: jfridov@emory.edu Research 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.pdf In 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 intolerance How to effectively explain galactosemia to others The importance of proper diet management and label reading Historical development of newborn screening for galactosemia Current research developments and promising treatments The variable nature of galactosemia outcomes The role of early intervention in improving outcomes Research Highlights: Discussion of the 2017 study on dietary restrictions and outcomes Insights from animal model research The importance of longitudinal studies in understanding galactosemia Get Involved: Dr. Fridovich-Keil's lab is currently conducting observational studies on galactosemia. Families interested in participating can email her at jfridov@emory.edu 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 Podcast 06:03 Introducing Dr. Judith Fridovich-Keil 07:09 Describing Galactosemia to the Unfamiliar 07:52 The Importance of Accurate Information 18:32 Judy's Background and the Evolution of Galactosemia Research 34:34 The Role of Animal Models in Research 45:00 Current Studies and Future Directions 49:37 Participating in Galactosemia Research 55:34 Personal Story and Study Participation 56:32 Discussing the Largest Study on Galactosemia 58:00 Dietary Restrictions and Outcomes 01:06:24 Understanding Penetrance and Genetic Risks 01:13:46 Early Intervention and Historical Data 01:18:02 Promising Treatments and Research 01:23:34 Learning from Other Rare Diseases 01:29:41 Episode Recap and Key Takeaways | |||
| Welcome to The Galactosemia Podcast | 20 Dec 2024 | 00:02:50 | |
Coming Soon. A Podcast about Galactosemia | |||