Thursday, July 16th, 2026 | 11am EST
For rare disease drug programs, the patient and genomic evidence required for clinical development, endpoint selection, regulatory strategy, and patient access already exists in the published biomedical literature. The challenge for your team is that the information is scattered across millions of full-text articles, supplemental tables, figures, case reports, and historical publications that your current search tools cannot access and no human can read 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 genetic variant evidence into a structured, defensible regulatory evidence package that supported their commercial drug’s label expansion in Fabry disease.
KT and Sam will cover both the scientific and operational aspects of how Amicus achieved a successful outcome: how variant evidence was identified, evaluated, classified, structured, and submitted to regulatory authorities. Importantly, they will highlight that this process is repeatable across nearly every rare disease program, enabling more patients to be identified, diagnosed more quickly, and treated in a timely manner.
Attendees will learn:
How published variant evidence can remain invisible to pharma teams even when it exists in the literature.
Why public databases, such as ClinVar, may underrepresent the true landscape of rare disease variants.
What made the Fabry Disease evidence gap measurable, and how Genemenon’s work resulted in a 129% increase in P/LP GLA variants available in ClinVar.
How structured evidence can inform label expansion, and more patients being eligible to receive treatment.
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.
