Did you know that 1 in 10 people worldwide live with a rare disease?
Many of these conditions go undiagnosed for years, leaving families searching for answers. But thanks to newborn screening, early detection is saving lives before symptoms even appear.
In this special episode on Rare Disease Awareness Day (which occurs on the last day of February every year) and the Power of Newborn Screening , I take you on a journey through the history, impact, and future of newborn screening. We dive deep into the game-changing research that led to lifesaving tests—like the TREC screening for Severe Combined Immunodeficiency (SCID)—a breakthrough that I studied during my PhD.
What You’ll Learn in This Episode:
1. The history and purpose of Rare Disease Awareness Day
2. How newborn screening became a public health success story
3. The science behind TREC testing for SCID and why it’s a game-changer
4. How early detection is transforming treatments for rare diseases
5. The future of newborn screening with genomics & precision medicine
Every baby deserves a healthy start —and newborn screening is helping make that a reality. This episode is a must-listen for parents, healthcare professionals, public health advocates, and anyone passionate about rare disease awareness.
Tune in now and discover how public health innovations are saving lives, one newborn test at a time!
Spread the word!
Check out these advocacy organization and their resources to learn more about rare diseases:
- National Organization for Rare Disorders https://rarediseases.org
- Global Genes https://globalgenes.org
- Genetic Alliance https://geneticalliance.org
To learn about Kee Chan's PhD thesis research leading to the population-based newborn screening for severe combined immunodeficiency (SCID):
Kee Chan and Jennifer M. Puck. Development of Population-based Newborn Screening for Severe Combined Immunodeficiency Journal of Allergy and Clinical Immunology , Feb 2005, 115: 391-8.
Kee Chan, Joie Davis, Sung-Yun Pai, Francisco Bonilla, Jennifer M Puck, and Michael Apkon, A Markov Model to Analyze Cost-Effectiveness Analysis for Newborn Screening for Severe Combined Immunodeficiency, Molecular Genetics and Metabolism, 2011 Nov;104(3):383-9.
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