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. […]
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. […]
The thing about rare diseases? – they’re not so rare! In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. And because the number of people affected by any one rare condition is so low, the resources or support allocated to find answers for those conditions, is often limited. The frustrating thing about this is that while close to 7000 rare diseases have been identified, there are many more conditions emerging that are yet unknown or undiagnosed. It is estimated that about 350 million people worldwide are affected by a rare disease which tells us that rare diseases are actually not as uncommon as people may think. […]
In episode 5, we hear from Professor Ross McManus, Professor in molecular medicine at Trinity College Dublin, who discusses the power of genomic research in the context of COVID-19. He talks about how genomic research is accelerating our understanding of the virus so that we have clearer insights into how our immune system responds to the virus and how we might develop effective treatments beyond vaccines in the future. We also hear from Britta Wyatt who shares her experience with Long COVID; how it has impacted her life over the past 9 months, and her trust in research to find answers. […]
In episode 4, Richard Stephens, patient advocate and Chair of the Stakeholder Forum for BBMRI-ERIC, the European research infrastructure for biobanking, talks to us about the value and power of patient and participant involvement in clinical research as well as how patients can benefit from the use of biobanks for advancing clinical research. We also hear the incredible personal story from Linda Tormey, Director of Clinical Programs and Operations at Genuity Science, who talks about the loss of both her parents at a young age and how it motivated her to pursue a career in clinical research so that she could help find solutions for those difficult to treat diseases. […]
In episode 3, Dr. Howard Jacob, VP and head of genomic research and data convergence at AbbVie talks to us about how genomics is a potential gamechanger for drug discovery and development, the inspiring story of 4-year-old Nicholas Volker who had a very rare disease and was the first individual patient to have his genome read in the clinical setting, and what Howard’s genome tells him about how he should manage his own health. We also hear a powerful personal story from Terri Brannigan who shares with us the challenges she has faced as a person living with Crohn’s Disease since her diagnosis at 15. […]
In episode 2 patient advocate and research consultant, Nuala Ryan, talks to us about her family’s journey through her diagnosis of the BRCA1 variant, their search for a diagnosis for her son’s rare disease, and how all of this has impacted her family. We also hear from Abby Langtry, Director of Patient Advocacy and Community Engagement at Genuity Science, who shares her story about her grandfather who had multiple sclerosis and decided to donate his body to science, and how this and her experience as an oncology nurse inspired her to work for Genuity Science. […]
In this episode of In Sequence, we hear from Ian Coleman, a bioinformatician at Genuity Science. Ian talks to us about what it’s like to work as a bioinformatician; glow-in-the-dark DNA, and what the human genome can tell us about our health. We also hear from Amy Swearingen, VP of Corporate Communications and Brand, who shares her story about why her dad’s illness motivated her to work in genomic research. […]
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