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