Heteroplasmy. Heterogeneity. Hidden Evidence. Why Mitochondrial Drug Programs Run on Incomplete Patient Pictures, and What to Do About It.

June 25th, 2026 | 11 am EDT

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.

Speaker
Sarah Chang, PhD
Medical Strategy Lead, UCB

Sarah Chang, PhD, is a medical affairs professional with over 20 years of experience in the pharmaceutical industry. At UCB, she leads initiatives focused on an ultra-rare mitochondrial disease, called thymidine kinase 2 deficiency (TK2d). Her work centers on advancing genetic understanding and improving diagnostic pathways to help patients receive earlier, more accurate diagnoses. Deeply committed to the rare disease community, Dr. Chang is driven by the belief that every patient—no matter how rare their condition—deserves timely care, meaningful support, and the hope of a better future.

Speaker
KT Curry, MS CGC
Field Application Scientist, Genomenon

KT Curry, MS, CGC, is a genetic counselor whose career has spanned the full breadth of the rare disease landscape - from general and metabolic genetics clinic to laboratory genetic counseling, quality assurance of germline variant interpretation, and her current role as a Field Application Scientist at Genomenon. With deep roots in both clinical and molecular genetics, KT brings a uniquely integrated perspective to the challenges of rare disease diagnosis. She is driven by the belief that pharmaceutical solutions should reflect the full spectrum of human disease. No condition is too rare, too complex, or too overlooked to deserve scientific pursuit and meaningful therapeutics.

Genomenon

The Real-world Evidence to validate a drug target, identify trial-eligible patients, or change a diagnosis already exists. It is buried in 39 million biomedical articles, locked behind paywalls and supplemental files most researchers never find.

Genomenon closes that gap. Fit-for-purpose AI-powered search reads 11.2 million full-text papers and 3.7 million supplemental datasets. Eighty expert scientific curators validate every finding. The result is structured, traceable, regulatory-grade Real-World Evidence at the genetic variant and patient level. Loxo@Lilly used Genomenon to add 73 variants to the RET label. In a head-to-head, Genomenon identified 83% more rare disease patients than ChatGPT plus OpenEvidence.

250+ diagnostic labs and 75 biopharma programs rely on Genomenon as the evidence layer behind precision medicine.

The World’s Most Comprehensive Source of Genomic Evidence

Mastermind accelerates variant interpretation with immediate insight into the full text of millions of scientific articles. Prioritize your search results by clinical relevance and find what you are looking for 5-10 times faster

Explore Mastermind CORE
Every Missing Genetic Variant is a Patient Your Label Doesn't Reach
  • Rare disease and precision oncology programs rely on evidence fragmented across millions of published articles and supplemental datasets.
  • Genomenon builds the custom real-world evidence your program needs.
  • AI-powered search. Expert scientific curation.
  • The result: a broader label, more eligible patients, and a regulatory filing your team can defend.
Request a custom evidence build for your program
speak with an expert