HighlightsIntroduction | The episode begins with a short explanation of what clinicogenomics is and how that relates to our DNA, along with the impact of rare diseases in the United States. 04:42 Roundtable | Allison Pullins and Dr. Ashley Brenton | Callie, Allison and Dr. Brenton talk about what life is like when a family member has a rare disease, from the difficult and confusing journey toward a diagnosis to the search for a scientific breakthrough.26:32 Roundtable | Dr. Alex Liede and Dr. Ashley Brenton | After hearing the patient perspective from Allison, Callie and Dr. Brenton are joined by Dr. Liede to hear about his work as a genetic epidemiologist, where he uses genetic information and real-world evidence to study disease in populations. They discuss the type of data necessary for Dr. Liede's work, how it can help with drug development and what the future of the field may look like. 42:37 Conclusion| Stacey and Callie close out the episode with a brief reflection on the two conversations and a preview of what's waiting in the next episode.
ResourcesThe National Economic Burden of Rare Disease Study (Everylife Foundation)Clinicogenomics for life sciences
Allison Pullins, Rare disease parent and advocate
Dr. Alex Liede, Head of Real-World Evidence and Partnerships in Global Epidemiology, AbbVie
Dr. Ashley Brenton, Vice President Real World Evidence and Genomics, Optum
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