Season 2025, Episode 33: Uncovering Genetic Causes of Congenital Anomalies | Innovative Pipeline Integrates Whole-Genome Sequencing and Zebrafish Models
In this episode of SciBud, we delve into a groundbreaking study investigating the genetics of congenital anomalies (CAs), structural abnormalities present at birth that affect 2 to 5 percent of newborns worldwide. Join Maple as we unpack how researchers employed custom whole-genome sequencing to identify potential genetic variants in undiagnosed cases, examining 18 patients and their families. Discover how advanced tools like CRISPR and zebrafish models helped validate candidate genes, paving the way for future diagnostics and treatments. While the study reveals exciting prospects in understanding the genetic drivers of congenital disorders, it also raises important questions about data transparency and reproducibility in research. Tune in for a concise, engaging exploration of these vital discoveries that could change the lives of countless families.