NEW WEBINAR: Discovering the Missing Link between my Rare Disease and an Olympic Athlete
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 will also discuss 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.
27th February 2018
13:00 ET (18:00 GMT)
On-Demand Webinar: Rare Inherited Disease: 30 Min from data to report
Andrea Haworth, Head of Clinical Services and Laura Reed, Pre-Registered Clinical Scientist at Congenica share their experiences and challenges of Whole Genome Analysis and the insights gained from using Sapientia with the Genomics England 100K project.
On-Demand Webinar: Practical Applications of Genome Interpretation for Rare Disease Diagnosis and Research
Dr Matt Hurles, Dominic McMullan FRCPath, and Dr Hywel Williams speak about their experiences in genome interpretation for rare disease diagnosis and discovery. Each presentation covers discoveries made during each of their projects, and the lessons learnt and applied.