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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
