Demystifying Genetics

At the Crossroads of Discovery: Genetics, Ethics, and the Story of Chopra-Amiel-Gordon syndrome (ANKRD17 gene).Demystifying Genetics with Maya Chopra

In an engaging exploration of genetics, join me as I converse with the distinguished Dr. Maya Chopra of Harvard Medical School and Boston Children's Hospital. We delve into her captivating journey of researching rare and complex disorders, providing an intriguing insight into the intersection of research and clinical practice. We also explore the crucial role of clinical geneticists in the fast-paced world of gene therapy. The middle segment of our conversation takes an ethical bend as we dissect the moral dilemmas and credentialing challenges associated with gene therapy. We discuss the complexities involved in assigning scores to ethical considerations and examine how the recredentialing process in healthcare has transformed over time. Moreover, we touch on the benefits of approaching medical learning from a mature perspective.In the final part of our discussion, Dr. Chopra shares an enlightening account of her discovery and research on the Chopra-Amiel Gordon Syndrome. This dominant condition exhibits varied levels of severity, adding to the complexities of its understanding. We also highlight the importance of genetic counseling in genomic medicine and shed light on the power of multilingual communication in this sphere. The episode concludes on a lighter note with Dr. Chopra sharing amusing anecdotes about her canine companions. Tune in to this compelling episode for an immersive experience into the world of genetics!https://www.childrenshospital.org/directory/maya-chopraChopra-Amiel Gordon Syndrome https://www.ncbi.nlm.nih.gov/medgen/1794185
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Where Law Meets the Genome: Genetic Counselling, Human Rights, and Public Health Ethics. Demystifying Genetics with Julia Mansour

Prepare to be immersed in the intriguing world of genetic counseling as we navigate its intersection with law, policy, and public health, with our esteemed guest, Julia Mansour. This episode promises to expand your horizons, offering insights into Julia’s career transition from law to genetic counseling, her stance on the controversial position statement from the Human Genetic Society of Australasia, and her unique experiences living in Tasmania. Our conversation doesn't stop there! Ever wondered how the worlds of public health and law intertwine in real-life scenarios? Enter the realm of petrol sniffing prevention in remote Australia and the fight against Ebola, where Julia’s experiences beautifully demonstrate the power of collaboration across communities, governments, and private entities. Be prepared to question the black and white nature of rules as we explore the ethical challenges of genetic testing. This episode isn't just an interview; it's a journey into the heart of public health, law, and genetic counseling, with lessons and stories that are sure to leave you enriched and enlightened.https://hobartwomensspecialists.com.au/staff/julia-monsour/
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

From Chromosomes to Chapters: The Journey of a Genetic Educator. Demystifying Genetics with Janice Berliner

Get set for an enlightening journey into genetics and writing with the remarkable Janice Berliner. Our conversation traverses her career evolution from being a genetic counselor to steering the helm as a program director, revealing her fears, inspirations, and her passion for nurturing the next generation in the field. She's also candid about her plunge into academia and the transformative landscape of genetic testing technology she's witnessed over her career.The second half of our chat takes a thought-provoking turn, exploring the crossroads of ethics, genetics, and writing. Berliner's decade-old book on ethics in genetic counseling is a testament to its enduring relevance. Hear her insights on the delicate dance of discovery and patient communication and her aims of making genetics more accessible to the average person. We also discuss the representation, or lack thereof, of genetic conditions in fiction, and the importance of authenticity in writing. A conversation with Janice Berliner is a deep dive into the human side of genetics and the power of storytelling in science. Tune in, you won't want to miss it!https://janiceberliner.com/https://www.baypath.edu/academics/faculty-directory/biography/janice-berliner/https://a.co/d/2OdBE29https://a.co/d/6aP8yOs
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Alfie, Academia, and the Art of Genetic Counseling Research. Demystifying Genetics with Laura Forrest

Explore the captivating world of genetic counseling with Laura Forrest, a respected academic and associate genetic counsellor all the way from Melbourne, Australia. Together, we untangle the intricacies of qualitative research in clinical genetics and the fascinating journey through her PhD in familial communications. We also delve deep into her publications and discuss the promising Genetic Counseling Outcome Scale. Along the way, enjoy lighter moments as Laura shares the story of her new puppy Alfie and his toilet training tale. Furthermore, we underscore the transformative power of feedback on refining our work.In the second half, we navigate the significance of mixed-methods research in shaping a robust academic and research career. Through an enriching conversation, we provide insight into the multi-method studies, their applications, and the merits of qualitative and quantitative methods. Laura also opens up about her experiences of co-authoring papers with her husband. Shifting gears, we discuss the Genetic Counseling Outcome Scale (G-COS), an innovative tool designed to measure the empowerment outcomes of genetic counseling. Discover the five constructs of the G-COS and learn how it can amplify the effectiveness of research and practice. Tune in to this enlightening episode and stay informed!Genetic Counseling Outcome Scale https://pubmed.ncbi.nlm.nih.gov/21255005/https://www.petermac.org/staff-details/laura-forresthttps://findanexpert.unimelb.edu.au/profile/135809-laura-forrest
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Pilar Magoulas

In this second episode of season 2 of Demystifying Genetics I chat with Chief Genetic Counselor Pilar Magoulas from Texas, USA. This is my first episode in this series where I chat with an American genetic counselor. https://www.texaschildrens.org/find-a-provider/pilar-magoulas-ms-cgc
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Elly Lynch

Hello! I've returned with my podcast Demystifying Genetics. In this return pod I talk to senior genetic counsellor Elly Lynch. Elly and I discuss genetic counselling in the current climate in Melbourne, Australia. https://www.linkedin.com/in/elly-lynch-9089192a/?originalSubdomain=au
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics for Hereditary Breast and Ovarian Cancer Week

This week is Hereditary Breast and Ovarian Cancer Awareness and I was lucky enough to have three fabulous guests on Demystifying Genetics. First Guest – Ellen Matlof, Genetic Counselor & Director, My Gene Counsel Ellen is a genetic counsellor extraordinaire in Connecticut, USA, with many years experience working in the familial cancer setting. We discuss: • The role of the Genetic Counselor and their role in the ordering and interpretation of genetic results • What a gene is and what variants in a gene means • The My Gene Counsel Living Lab Report • Hereditary cancer testing including BRCA1 & BRCA2 • APOE testing and dementia • Gene patenting • Case studies of misinterpretation of genetic results due to no genetic counsellor being involved. 
Second Guest- I go on to speak to Nicole. She has recently found out she has a BRCA2 mutation and was lovely enough to come on the podcast to share her story. We talk about how she came to have genetic testing, the impact it has had on her life and that of her family. 
Third Guest – Krystal Barter – Founder of Pink Hope Krystal has a very strong family history of breast cancer and she found out she had a BRCA1 mutation at 21. After having a preventative double mastectomy, Krystal founded an online support organisation called Pink Hope. Pink Hope is a fabulous resource. https://www.mygenecounsel.com/about-us/https://www.krystalbarter.com/home-mobile
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Mike Field

In this ninth Demystifying Genetics podcast I discuss Fragile X and other conditions of learning disability with Dr Mike Field, Consultant Clinical Geneticist. Mike has a lovely way of taking complex concepts and issues and explaining in a way that is easy and straightforward to understand. Mike has been involved with many research projects to do with the genetics of learning disability and we spent some time talking about this. We also covered In vitro Fertilisation (IVF) and preimplantation genetic diagnosis (PGD), which are techniques that an individual or couples may choose to achieve a pregnancy and by eliminating the risk of passing a certain condition on to the next generation. We end our podcast together by discussing bioinformatics and it’s relationship with clinical genetics and the future of genetics. https://geneticfield.com.au/learn-more/the-team/
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with John Conaghan

Welcome to a podcast all about Huntington disease (HD). Joining me in this podcast is Senior Social Worker John Conaghan. I love all my guests and love all of my conversations about demystifying genetics, however this podcast feels special. John is such a caring and empathic worker and his kindness shines through in this conversation. We discuss what Huntington disease is and how it affects people with the condition and also the affect it has on their families. John has a long history of working with people and families affected with HD. John was working before the gene for HD was discovered. We talk about what it was like when genetic testing for the HD gene became available. Before direct genetic testing was available, a less sophisticated test called “linkage” was available and John discusses the issues with this type of testing and the hope that came with direct genetic testing. The new hope is that of genetic therapies that may come. https://lifesupportscounselling.com.au/counsellors/john-conaghan/https://www.jodieharrison.com/news/speeches/king-s-birthday-honour-for-john-conaghan-oam/
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Martin Delatycki

Prof Martin Delatycki joins me for this podcast. Martin is a clinical geneticist in Melbourne, Australia. He works clinically, but also has a strong research interest. We speak about the following genetic conditions: • Friedreich’s ataxia • Hereditary Haemochromatosis • Tay Sachs disease • Spinal Muscular atrophy • Spinocerebellar ataxia type 3 More information about these conditions can be found at rarediseases.org We also talk about the genetic research and clinical trials that Martin is involved with including ones regarding resveratrol, rehabilitation and community screening. https://www.mcri.edu.au/researcher-details/martin-delatyckihttps://www.vcgs.org.au/news/order-of-australia-martin-delatycki/
Support the show
Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/