Mitochondrial disease is more common than many people realize, yet the path to diagnosis remains long, complex, and often incomplete. With more than 350 genes known to cause primary mitochondrial disease, overlapping clinical presentations, high VUS rates, and fragmented evidence across the published literature, patients can remain undiagnosed or delayed even when the evidence exists.
Join KT Curry, MS, CGC, Field Application Scientist at Genomenon, and Sarah Chang, PhD, Medical Strategy Lead at UCB, for a candid fireside conversation on why mitochondrial disease programs need stronger, more complete patient and variant evidence from the start.
This session will give you a practical view of how real-world evidence from the literature can strengthen mitochondrial disease programs, improve variant interpretation, and help build a more complete picture of the patients still waiting to be found.
Who should attend:
Pharma and biotech teams working in rare disease, mitochondrial disease, neuromuscular disease, genetic medicine, clinical development, medical affairs, patient finding, diagnostics, variant interpretation, and real-world evidence who need a clearer understanding of how incomplete evidence can delay diagnosis and limit patient identification.
