February 27, 2018

Discovering the Missing Link between my Rare Disease and an Olympic Athlete

Genome Webinar

Emery-Dreifuss Muscular Dystrophy Patient Advocate

Head of Lab; Clinical Genomics and Personalized Medicine Specialist,
Congenica

Deputy Head of Clinical Services,
Congenica

In this webinar, Jill Viles, an Iowa mother with no clinical training, shares her story of how she self-diagnosed her rare condition, a muscle-wasting disease caused by a mutation in the LMNA gene. She also discusses how she discovered that a mutation in the same gene is the underlying cause for the excess muscle phenotype exhibited by Canadian Olympic hurdler Priscilla Lopes-Schliep. 

Members of Congenica's clinical team also discuss their identification of a potential modifying gene, SMAD7, which may contribute to Jill’s alternative phenotype, and how these are being used to further research the cause of her disease.

This webinar will cover:

  • Jill's steps to discovery and how she first started working with Congenica
  • How Congenica found the potentially modifying variant
  • The SMAD7 gene mutation, and how Sapientia can be used to make similar diagnoses
  • How Jill is acting on this information and looking to the future
Jul
19
Sponsored by
Thermo Fisher Scientific

This webinar will discuss how ultra-highly sensitive and customizable targeted next-generation sequencing panels are applied in inherited disease research. 

Aug
15
Sponsored by
Swift Biosciences

This webinar will discuss the Cancer Avatar Project at the California Pacific Medical Center Research Institute (CPMCRI) and the efforts to overcome complexity of tumor profiling using the Accel-Amplicon sequencing workflow from Swift Biosciences.