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