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  • NASH: unravelling the complexity of liver disease with genomics.

    NASH: unravelling the complexity of liver disease with genomics.
    Apr 28 2021
    In episode 8, we talk to Dr. Scott Friedman, internationally renowned physician and scientist, who explains why Non-alcoholic steatohepatitis or NASH is a liver disease that is becoming a growing health concern world-wide. Dr. Friedman describes the extraordinary capacity for the liver to regenerate, his ground-breaking research into the cause of inflammation and resulting scarring or fibrosis of the liver, and how Whole Genome Sequencing is being used to improve our understanding of why some people have a higher risk of developing the condition than others. Finally, he talks about how drug companies are leveraging all of this growing information in order to develop better diagnostics and new effective treatments for NASH and other forms of chronic liver disease.
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    41 Min.
  • Ep 7: In A Heartbeat - How Whole Genome Sequencing is telling us more about Heart Failure

    Ep 7: In A Heartbeat - How Whole Genome Sequencing is telling us more about Heart Failure
    Mar 31 2021
    Professor Mark Ledwidge, Co-Founder and Director of the Heartbeat Trust talks about his research and how Whole Genome Sequencing is helping to unravel some of the mysteries surrounding heart failure. He discusses the challenges around the sub-type of heart failure known as Heart Failure with Preserved Ejection Fraction where the pump itself is working correctly but the heart is unable to fill adequately to provide enough blood for the body’s needs. We also hear from Mark’s father, Tom Ledwidge who, at 81 leads a very healthy and active life despite his own heart issues. Tom advocates strongly for clinical research and is a research participant himself.
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    52 Min.
  • Ep 6: Chasing a Cure: Searching for answers to Congenital Hyperinsulinism leveraging genomics

    Ep 6: Chasing a Cure: Searching for answers to Congenital Hyperinsulinism leveraging genomics
    Feb 26 2021
    In celebration of Rare Disease Day, we hear from a panel of five inspiring guests - all who share their unique perspectives about one particular rare condition called Congenital Hyperinsulinism. Join us to hear these valuable insights from Julie Raskin – Co-Founder and Executive Director, Congenital Hyperinsulinism International (CHI), New Jersey, and mom to Ben who has congenital hyperinsulinism; Sheila Bose – Vice President of the Board of Directors for CHI and parent to 3 children born with congenital hyperinsulinism; Dr Sarah Flanagan - Associate Professor in Genomic Medicine at the University of Exeter Medical School; Dr. Diva De León-Crutchlow - Chief of Endocrinology and Diabetes and Director of the Congenital Hyperinsulinism Center at Children's Hospital of Philadelphia; and Dr. Paul Thornton – Medical Director of the Endocrine and Diabetes Program at Cook Children’s Medical Center, Texas.
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    32 Min.
  • Ep 5: Probing the Pandemic - Applying genomic research to accelerate our understanding of COVID-19

    Ep 5: Probing the Pandemic - Applying genomic research to accelerate our understanding of COVID-19
    Jan 28 2021
    In episode 5, we hear from Professor Ross McManus, Professor in molecular medicine at Trinity College Dublin, who talks about his current research on people’s immune response to COVID-19. He also discusses how genomic is helping to accelerate our understanding of COVID-19 and how it can be applied to help develop better treatments in the future. We also hear from Britta Wyatt who shares her experience with Long COVID and how it has impacted her life over the past 9 months.
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    41 Min.