Webinar | The Diagnostic Odyssey: Perspectives and Key Learnings from Patient Organisations and Industry
In this webinar we will explore the challenges and opportunities associated with rare disease diagnosis – with a focus on ongoing initiatives that are helping accelerate the identification of rare genetic disorders. Over the course of the 60-minute session our speakers discuss the following topics:
- The value of genomic diagnosis
- Expanding diagnosis and enabling precision medicine
- Experience and learnings from SynGAP Research Fund
Expert speakers include:
- Charlene Son Rigby, Chief Business Officer at Fabric Genomics and President at STXBP1 Foundation
- Mike Graglia, Managing Director at SynGAP Research Fund
- Dr Shirlene Badger, Patient Advocacy Lead for EMEA at Illumina, Inc.
You can watch the webinar recording below. We did our best to answer as many questions during the session, but if you have any additional ones for us please take a look at our FAQs section or submit them via email to firstname.lastname@example.org
About our speakers
Charlene Son Rigby | Chief Business Officer at Fabric Genomics and President at STXBP1 Foundation
Charlene has spent her career building businesses at the intersection of data, technology and life sciences. She previously held executive roles at enterprise software and genomics companies including Oracle and Doubletwist, and started her career in neuroscience research at Roche. Charlene is also President and a Founding Board Member of the STXBP1 Foundation and is committed to finding a cure for her daughter’s rare genetic disease. This unplanned connection between her personal life and profession has helped push forward the search for a cure for her daughter and kids like her, and given her work deeper meaning. She holds a BA in Human Biology from Stanford University and an MBA from the Haas School of Business at UC Berkeley.
Mike Graglia | Managing Director at SynGAP Research Fund
Mike comes from a career in public policy, international development and strategy. Previous roles have included budget and planning at both the Gates Foundation and Emerson Collective and healthcare consulting at BCG. He has an MBA from Columbia University and an MA in Southeast Asian studies from Johns Hopkins School of Advanced International Studies. Mike lives with his wife and two sons in Palo Alto, California. His son Tony was diagnosed with SYNGAP1 in 2018, when he was four. Together with his wife, Ashley Evans, he founded the SynGAP Research Fund, 501c3, to accelerate the science around SYNGAP1 in order to make sure there is a therapy developed in a time frame that matters for his son, and children like him.
Dr Shirlene Badger | Patient Advocacy Lead for EMEA at Illumina, Inc.
Shirlene is Patient Advocacy Lead for EMEA at Illumina, Inc. In this role, she leads the patient advocacy strategy and engagement across the fields of rare and undiagnosed genetic disease, reproductive health and oncology. Trained as a medical sociologist, she spent over fifteen years leading academic research initiatives at the University of Cambridge and Kings College London that sought to elevate the impact of patient voice in the development and implementation of novel and experimental medical technologies.