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“My child has distinctive facial features, isn’t growing as tall as expected, and seems to be developing a bit more slowly than other children. Why would so many different symptoms appear across the whole body instead of just one organ?” Many rare genetic disorders arise from a defect in a single protein that affects only…

Bioinformatics is a field that uses computer science to understand complex biological data, especially DNA sequences. It is essential for interpreting the massive amount of data generated by modern genetic tests like whole exome sequencing. In rare disease diagnostics, bioinformatics helps pinpoint the specific genetic variant responsible for a patient’s symptoms from millions of possibilities.…

📍Key Takeaways Mitochondrial diseases are a group of genetic disorders that primarily affect the function of mitochondria, the energy-producing structures within cells. These disorders can arise from variants in either mitochondrial DNA or nuclear DNA. Variants in nuclear genes associated with mitochondrial function are often included in the targeted gene panels or exome sequencing tests…

“My child is a bit slow in development, but why are their height and head circumference growing so rapidly?”  Many parents naturally assume that if a child grows quickly, it simply means they have “excellent physical development” or have inherited a large build. However, if your child is exceptionally tall, has a large head, and…

Key Takeaways Sample-Level ‘Access Group’ In clinical genomic analysis, external expert consultations and multi-institutional collaborative research are becoming increasingly vital. However, in real-world operations, strict data security policies often make it incredibly difficult to share only the necessary samples safely. “I just want to share this specific sample to get an expert opinion, but I…

Heterozygous refers to inheriting two different versions, or alleles, of a particular gene from your biological parents. For example, you might inherit a gene for blue eyes from one parent and brown eyes from the other. This genetic state is fundamental to understanding inheritance patterns. Whether being heterozygous affects health depends entirely on the specific…

*Please note that as of the date of this post, 3B-NEO is not yet available in South Korea.  During pregnancy, NIPT is the gold standard for protecting your baby before birth. But what happens once your newborn finally arrives? In the first few days of life, hospitals perform routine physical checks and basic newborn blood…

Key Takeaways 📌 Series Introduction This series is authored by clinical genomics experts at 3billion. In an era where AI-driven variant prioritization tools have become ubiquitous, we focus on what interpreters must critically evaluate and decide after automated prioritization is complete. In each episode, we focus on a specific disease group, exploring both the underlying…

At a Glance When delayed walking (OR 15.96), receptive language impairment, borderline IQ, dysmorphic features, or motor delays are present, exome sequencing should be considered first.A landmark clinical study has finally answered a question families have been asking for years. The clinical genetic diagnostic yield for childhood motor speech disorders (CAS/dysarthria) is 29% — on…

📍Key Takeaways What Is EDS? Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders caused by defects in collagen synthesis or structure. Because connective tissue is distributed throughout the body — in joints, skin, blood vessels, and internal organs — symptoms can manifest across multiple organ systems simultaneously. The 2017 International EDS Classification…