Jewish Ancestry & Genetics: Carrier Screening, Community and Choice
Host Matt Burgess interviews Gidon Schwartz from Jnetics, a UK charity offering pre-conception carrier screening and partnering with the NHS to increase access to BRCA and carrier testing for people with Jewish ancestry.
They discuss why ancestry matters for certain recessive conditions, how testing and outreach have evolved, ethical and identity challenges around asking about ethnicity, and where to find resources and genetic counseling.
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From Clinic to TikTok: Dena DNA’s Journey Demystifying Genetics
Host Matt Burgess interviews genetic counsellor and content creator Dena Goldberg (Dena DNA) about her path from clinical genetics to social media, her work educating the public on Lynch syndrome and cancer genetics, and how storytelling makes complex science accessible.
The episode also covers Dena’s personal experiences with infertility and an undiagnosed medical condition, her tips for self-advocacy in healthcare, and how authentic content can empower patients and combat misinformation.
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Living with CMT: Finding Answers in the SORD Gene
In this episode Matt Burgess interviews Darryl Beitsch about his lifelong experience with Charcot‑Marie‑Tooth (CMT) and the late discovery that his neuropathy is caused by mutations in the SORD gene.
They discuss diagnosis, nerve testing, genetic testing advances, family implications, volunteering with CMT Australia, and the importance of research, community support, and practical management.
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‘Powerhouse’ Lives: A Genetic Counselor’s Journey Through Mitochondrial Disease (GUK1)
Genetic counsellor Matt talks with Devin Shuman, a fellow genetic counsellor and rare-disease patient, about her family’s diagnosis of mitochondrial DNA depletion syndrome, the long diagnostic odyssey from muscle biopsy to a candidate gene discovery, and the realities of genetic testing. Devin discusses the process of a disease causing variant in GUK1 being identified.
They also explore how mito affects day-to-day life, the promise and limits of experimental treatments and compassionate access, the strength of the rare-disease community, and the small joys—service dogs, activism, and creative outlets—that sustain people living with rare conditions.
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Unraveling Charcot-Marie-Tooth (CMT): A Journey Through Generations. Demystifying Genetics and CMT1A with Peter Critchley
Welcome to another enlightening episode of Demystifying Genetics, hosted by Matt Burgess. In this episode, we dive deep into the world of Charcot-Marie-Tooth disease (CMT) with Dr. Peter Critchley, who himself is affected by this genetic condition. The conversation uncovers the nuances of CMT, focusing on CMT1A - the specific gene in Peter's family.
Peter shares insights into how this hereditary peripheral neuropathy affects various aspects of life, from physical challenges to societal misconceptions. The episode sheds light on his personal experiences, from childhood nerve conduction tests to day-to-day living with the condition.
Listeners will also learn about the impactful work being done with CMT Aussie Kids, a program that connects children with CMT across Australia, providing support and fostering friendships. This episode offers a profound understanding of how individuals and families navigate life with CMT and underscores the importance of awareness and support for people living with rare genetic diseases.
This is a podcast series called Demystifying Genetics where I, Dr Matt Burgess, Genetic Counsellor interview other genetic counsellors, people working in genetics or people affected by genetic conditions. We chat about human clinical genetics, genetic counselling, ethics, pyschosocial issues and more. To contact me, please reach out at matt at insightgenomica dot au.
Australia