

MDJ Research Article of the Year: Harmonizing genetic testing for Parkinson's disease
Oct 28, 2024
Prof. Alessio Di Fonzo, Director of the Movement Disorders Unit in Milano, discusses his award-winning research on harmonizing genetic testing for early-onset Parkinson's disease. He highlights challenges in interpreting genetic variants and the need for continuous updates in classification. Di Fonzo emphasizes the prevalence of GBA1 mutations in patients diagnosed before 40 and the importance of collaborative networks among health institutes. His insights aim to improve patient care through unified genetic interpretation and enhanced diagnostic techniques.
Chapters
Transcript
Episode notes
1 2 3 4 5
Intro
00:00 • 3min
Evolving Classifications in Parkinson's Genetic Testing
02:30 • 2min
Exploring Genetic Mutations in Early Onset Parkinson's Disease
04:33 • 2min
The Importance of Diagnostic Techniques and Collaborative Research in Genetics
06:41 • 2min
The Importance of Collaborative Networks in Genetic Testing for Parkinson's Disease
09:02 • 3min