Achieving a Definitive Diagnosis for Epilepsy Patients
Dr Charles Steward, will speak on best practices for diagnosing epilepsy; the existing technologies and techniques, and the pathways to diagnosis. Dr Steward will provide case examples of innovative methods for shortening the diagnostic odyssey, and will also speak on how a definitive diagnosis can affect the care options & management of a patient, including his own personal experiences as the parent of a child with epilepsy.
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.
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.