• Ep 2: Navigating the diagnosis of the BRCA1 variant and a rare disease – one family’s story

  • Oct 23 2020
  • Length: 33 mins
  • Podcast

Ep 2: Navigating the diagnosis of the BRCA1 variant and a rare disease – one family’s story

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  • Summary

  • 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. Links Follow us on our social media: LinkedIn: www.linkedin.com/company/genuityscience/ Facebook: www.facebook.com/genuitysci Instagram: www.instagram.com/genuitysci
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