Ep. 82: Gene Mutations and Gene Variants

Show notes

Moderator: Federica Montagnese (Munich, Germany)

Guest: Magda Mroczek (Basel, Switzerland)

In this podcast, Dr. Federica Montagnese interviews Dr. Magdalena Mroczek about gene mutations and variants in neuromuscular disorders, with a focus on muscular dystrophies. They discuss the impact of advanced technologies on genetic testing, highlighting the importance of clinical data and collaboration between clinicians and geneticists. The conversation touches on challenges in interpreting variants, the role of epigenetic factors, and initiatives to enhance access to genetic tools in low-income countries through international collaborations. The podcast underscores the dynamic nature of genetic diagnostics, emphasizing the importance of continuous research and education in the field.