Big Data for Rare Disease Pharma:
Using Genomic Landscapes to Accelerate Drug Development

Tuesday, June 30th, 2020

Q&A Coming Soon!

Rare disease is anything but rare. There are over 7,000 conditions in this broad category that collectively impact the lives of millions of patients and their family members. Because of their rarity, it’s essential for pharma to have comprehensive access to the relatively little genetic research available.

A more clear and complete understanding of the genetic cause of disease has profound implications for drug development. In fact, drug targets with human genetic evidence of disease association are twice as likely to lead to regulatory approval.

Understanding the genetic drivers of rare disease accelerates drug development at each stage of the process by:

  • Informing downstream research and discovery,
  • Guiding biomarker selection for clinical trial selection and segregation criteria, and
  • Providing documented evidence for CDx validation.

There is a proven process to assemble this essential genomic insight for rare diseases: Mastermind Genomic Landscapes. In this webinar, Genomenon co-founder and CSO Mark Kiel, MD, PhD, will use real-world examples to demonstrate how Mastermind Genomic Landscapes have empowered pharmaceutical researchers and translational teams to understand rare diseases at the molecular level.

Topics Discussed:

  • How Mastermind identifies 2-10X the number of pathogenic variants for specific rare diseases compared to results in genetic databases such as ClinVar.
  • How one rare pharma organization realized a 55-fold increase in genomic biomarkers to qualify patients for clinical trials.
  • How to accelerate the identification of genomic biomarkers for Companion Diagnostic (CDx) development, and assemble the supporting clinical evidence from the scientific literature.