In Sequence: a genomics podcast by Genuity Science

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.

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.

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.

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.

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.

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.

Read full show notes and transcript: https://genuitysci.com/news/in-sequence-ep-1…e-human-genome-2/

Our Host

Elaine Quinn

Our Guests

Nuala Ryan

Abby Langtry

About In Sequence Podcast

Terms such as ‘precision health’, ‘genomics’, and ‘bioinformatics’ have become popular in recent years. We hear them used more and more by experts talking about scientific research in the context of medicine and future health. But what is the significance of these terms when it comes to difficult-to-treat diseases such as cancer, diabetes, multiple sclerosis and other complex or rare diseases? How is genomics going to impact us as patients, families, and health care providers? The study of our genes (genomics) is helping scientists and clinical researchers gain a better understanding of health and disease. This deeper knowledge may identify the causes of such diseases and the risks associated with them, as well as shed some light on how diseases progress and respond to different treatments. Imagine if we could develop more precise treatments with minimal side-effects or even prevent these diseases from developing in the first place! This is not a podcast for geneticists or genomic scientists – they are already wildly excited about this stuff. This is for the rest of us who want to be educated on what genomics is and how it is revolutionising future health for all of us.

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