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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.

Jill Viles

Emery-Dreifuss Muscular Dystrophy Patient Advocate

Jill Viles has sought to more fully understand her genetic disorder, Emery-Dreifuss Muscular Dystrophy (EDMD), for more than twenty years. Viles earned a master’s degree in English from Iowa State University, and went on to pursue a career as an English instructor for several years. As an undergraduate, she pursued the study of genetics and supplemented these academic pursuits with internships in genetic laboratories. The intriguing story of her self-diagnosis and her shared genetic condition with Olympic sprinter, Priscilla Lopes Schliep, has been shared on “This American Life,” as well as numerous news outlets including ProPublica. Currently, she is at work on a work of narrative non-fiction about her life. She lives in a small town in Iowa with her husband and eleven-year-old son.

Suzanne Drury

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

Suzanne has a PhD in Molecular Toxicology from Imperial College London and more than ten years of translational research experience gained at the Royal Marsden Hospital, Breakthrough Breast Cancer, and the NE Thames Regional Genetics Service at Great Ormond Street Hospital for Children. She has designed, developed and tested a range of next-generation sequencing services for implementation in the diagnostic laboratory and worked on multiple research projects across various clinical disciplines.

Helen Savage

Deputy Head of Clinical Services, Congenica

Helen is a HCPC state registered Clinical Scientist. She has completed the Modernising Scientific Careers Scientist Training Programme, including an integrated MSc in Clinical Genetics. After receiving a BSc in Microbiology (Imperial College) she gained 7 years’ experience working in clinical NHS laboratories and specialised in designing, establishing, validating and implementing NGS services.

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