Thursday, July 30th, 2026 | 11am EST
For rare disease drug programs, much of the patient, genomic, and functional evidence needed to support clinical development, regulatory strategy, label expansion, and patient access may already exist in the published biomedical literature.
The challenge is that this evidence is scattered across full-text articles, supplemental tables, functional studies, case reports, and historical publications that traditional search tools cannot fully access and no human team can review at scale.
Join KT Curry and Sam Globus for a 30-minute fireside conversation on how Genomenon helped a mid-size biopharma company transform unstructured published GLA variant and functional evidence into a structured, traceable regulatory evidence package that supported the expansion of its commercial Fabry disease drug label.
KT Curry and Sam Globus will cover how Genomenon built the GLA variant landscape, evaluated functional evidence, and created submission-ready packages through a process that can be applied across nearly any rare disease program.
They will also discuss the evidence infrastructure needed to make this work consistent, traceable, and defensible, and how the same approach can help rare disease teams identify evidence gaps earlier and support clinical, regulatory, diagnostic, and access decisions throughout the drug-development lifecycle.
Attendees will learn:
-Why variant-level evidence is often not ready to support label expansion without structured assessment, functional evidence review, and traceable documentation.
-How structured functional evidence helped support label expansion, including the addition of 15 GLA variants to the treatment label.
-What the GLA/Fabry case shows about turning scattered literature evidence into a defensible evidence package.
Who should attend?
This conversation is designed for pharma and biotech executives and operational teams developing new drugs for rare diseases, or in other aspects of precision medicine, including precision oncology. If you work in clinical development, medical affairs, regulatory affairs, translational science, or program leadership and you are focused on patient identification, regulatory strategy, clinical trial and endpoint selection, or label expansion, you will appreciate the value of listening to a conversation that can deliver meaningful impact to your organization.
