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Links & Resources Mentioned:
Galactosemia Foundation: galactosemia.org
Dr. Berry’s Paper “Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?” Link: https://drive.google.com/file/d/1nfWpURDtYK619CZbMHL0FrsHpTlyodW7/view?usp=sharing
Grant Abstract “Optimal Window of Opportunity for Granulosa Cell Gene Therapy in Galactosemia”: https://reporter.nih.gov/search/-xJ3CNT65k68090tWRqEwQ/project-details/10787066#similar-Projects
To participate in Dr. Berry’s long-term study on galactosemia outcomes, email: [email protected]
In this episode, we sit down with Dr. Gerard Berry, a world-renowned biochemical geneticist and pediatric endocrinologist, to discuss his decades of research in galactosemia. Dr. Berry shares his journey into the field, explains the complexities of the disorder, and sheds light on new potential treatments, including gene therapy and myo-inositol supplementation. He also discusses the history of galactosemia research, the challenges of treatment, and the promising future of medical advancements. This conversation is packed with fascinating insights and hope for the future.
Key Topics Discussed:
Dr. Berry’s career and how he became a leading researcher in galactosemia
The biochemical complexity of galactosemia and why dietary restriction alone isn’t enough
The history of galactosemia research and how our understanding has evolved
Potential treatments, including gene therapy, prenatal interventions, and myo-inositol supplementation
Why galactosemia presents differently in individuals and the role of genetic modifiers
The ethical challenges in developing new therapies
The future of galactosemia research and what gives Dr. Berry hope
Guest Bio: Dr. Gerard Berry is a leading biochemical geneticist and pediatric endocrinologist specializing in metabolic disorders, including galactosemia. He has published over 225 peer-reviewed papers and held prestigious positions at institutions like Boston Children’s Hospital and the Broad Institute of Harvard and MIT. Dr. Berry’s groundbreaking research has advanced our understanding of galactosemia, and he continues to work toward better treatments and, ultimately, a cure.
00:00 Intro
00:02:30 - Meet Dr. Gerard Berry
00:06:30 - What is Galactosemia?
00:14:00 - The Early Days of Galactosemia Research
00:22:00 - The Biochemistry of Galactosemia
00:30:00 - Complications & Global Impact
00:38:00 - The Future of Treatment
00:46:00 - Prenatal & Early Interventions
00:53:00 - The Role of Myo-Inositol in Galactosemia
01:12:00 - Why Symptoms Vary
01:20:00 - Galactosemia Across the World
01:30:00 - Hope for the Future
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thegalactosemiapodcast.com - support the show; ad-free and early access episodes
Links & Resources Mentioned:
Galactosemia Foundation: galactosemia.org
Foundation Newsletter Signup: galactosemia.org/newsletter
Galactosemia Discussion Group Facebook: https://www.facebook.com/groups/183815918306215
Food and Drug Law Journal Article: "Vegan Dairy: How FDA Can Avoid Crying Over Spilled [Cow-Less] Milk": https://papers.ssrn.com/sol3/papers.cfm?abstract_id=4586018
In this episode, we sit down with Keith Topper, a board member of the Galactosemia Foundation and someone who has lived with galactosemia for 27 years. As a recent law school graduate and professional at PwC, Keith offers unique insights into living with galactosemia and his advocacy work within the community.
Key Topics Discussed:
Personal experiences growing up with galactosemia
Strategies for managing galactosemia in social situations
The evolution of dairy-free food options over the past decades
The importance of community involvement and advocacy
Recent developments in galactosemia research and treatments
The role of the Galactosemia Foundation
Upcoming Foundation initiatives for 2025
Guest Bio: Keith Topper is a 27-year-old professional from Long Island, now residing in Brooklyn. He holds degrees from Boston University and St. John's Law School, and currently works at PwC. Keith serves on the board of the Galactosemia Foundation, being the only board member who has galactosemia himself.
00:00 Intro and Welcome
03:00 Describing Galactosemia to Others
07:00 Keith's Personal Journey
11:00 Growing Up with Galactosemia
20:00 Social and Educational Experiences
26:00 Advocacy and Foundation Work
29:00 The Galactosemia Conference Experience
36:00 Community Communication Updates
40:00 Vegan Dairy Legal Discussion
47:00 Treatment Developments and Future Hope
52:00 Personal Insights
1:01:00 Dr. Berry's Impact
1:05:00 Jill's Recap
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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: [email protected]
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 [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 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
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Coming Soon. A Podcast about Galactosemia
