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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: gerard.berry@childrens.harvard.edu
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
