#13- Rare Disease Day 2025: Digital Tools for Rare Conditions & Navigating Ultra-rare Disorders

In this episode we are exploring rare and ultra-rare disease in honor of Rare Disease Day on February 28 which raises awareness for the 300 million people worldwide living with a rare disease. We are talking with one author about their study on the role of digital tools in rare disease management and another author about their research into experiences of parents who have a child with an emerging-ultrarare disorder.

Segment 1: Exploring the role of digital tools in rare disease management: An interview-based study

Andrea Chang works as a Genomic Science Liaison at Quest Diagnostics and earned her MS in Genetic Counseling from UCLA’s inaugural genetic counseling class.

In this segment we discuss:

- The role of digital tools in healthcare management for rare diseases

- Real-world examples of existing digital tools for the rare disease community

- The impact of rare disease on the global population

- The healthcare gaps currently not addressed by digital tools

- Recommended digital tool features

Segment 2: The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders

Bethany Stafford-Smith works clinically as a genetic counsellor at University Hospitals of Leicester. She also works for Great Ormond Street Hospital as a Research Genetic Counsellor.

In this segment we discuss:

- The definition of emerging ultra rare disorders or E-URD

- Experiences of parents with children diagnosed with an E-URD

- Parents’ perceptions on the utility of a diagnosis

- Challenges faced by parents seeking medical and social support after receiving an E-URD diagnosis for their child

- How researchers and healthcare providers can support advocacy in E-URDs

Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.

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For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. 

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