[카테고리:] 블로그 (Blog)

Introducing VUS Subclassification & Point-Based Pathogenicity Scoring in GEBRA In clinical genomics, a Variant of Uncertain Significance (VUS) is often presented as a single outcome. “It’s a VUS.” But in practice, VUS is not a single state. Yet historically, they have been displayed identically within systems — as one undifferentiated category. This update is designed…

Williams-Beuren Syndrome: Clinical Features and Genetic Diagnosis Guide

—

제공

Williams-Beuren Syndrome is a rare neurodevelopmental disorder caused by a 1.5–1.8 Mb hemizygous deletion at chromosome 7q11.23, occurring in approximately 1 in 7,500–10,000 live births worldwide. 📍Key Takeaways 1. Etiology: 7q11.23 Deletion and Genetic Mechanism WBS results from a hemizygous deletion of approximately 26–28 genes at chromosome 7q11.23, including ELN (elastin), LIMK1, and GTF2I. Haploinsufficiency…

윌리엄스-뵈렌 증후군(Williams-Beuren Syndrome): 임상 특징과 유전자 진단 가이드

—

제공

윌리엄스-뵈렌 증후군(Williams-Beuren Syndrome)이란? 윌리엄스-뵈렌 증후군은 7번 염색체 장완(7q11.23)의 약 1.5~1.8 Mb 결실로 발생하는 희귀 신경발달 질환으로, 전 세계 출생아 약 7,500~10,000명당 1명의 빈도로 발생합니다. 📍Key Takeaways 1. 원인: 7q11.23 염색체 결실 및 유전 메커니즘 윌리엄스-뵈렌 증후군(WBS)의 원인은 7번 염색체 장완 q11.23 영역의 반접합성 결실(hemizygous deletion)입니다. 결실 영역에는 ELN(엘라스틴), LIMK1, GTF2I 등 약 26~28개의 유전자가 포함되며,…

“El síndrome de Usher está más cerca de lo que crees” —Una conversación con el Dr. Juan Carlos Zenteno Ruíz

—

제공

📍Puntos clave 1) El diagnóstico temprano del síndrome de Usher está directamente relacionado con los resultados del tratamiento. Un diagnóstico preciso determina si puede iniciarse la rehabilitación y marca el punto de partida para el asesoramiento genético de toda la familia. 2) Las pruebas genéticas integrales son esenciales. Dada la variabilidad fenotípica y la existencia…

“Usher Syndrome Is Closer Than You Think” — A Conversation with Dr. Juan Carlos Zenteno Ruíz

—

제공

📍Key Takeaways Usher syndrome is classified as a rare disease, but it is far from rare compared to most conditions in that category. While the majority of rare diseases affect approximately 1 in 1,000,000 people , the global average prevalence of Usher syndrome is estimated at approximately 1 in 25,000. This speaks to the significant…

When Should We Consider WES/WGS in Pediatric Patients? — Based on the 2021 ACMG Guidelines

4월 2, 2026

—

제공

In clinic, we frequently encounter patients like these: As we go through the diagnostic workup—CMA, single gene tests, targeted panels—there are still many cases where we fail to reach a definitive diagnosis. This is often referred to as the “diagnostic journey.” The Direction Was Already Set in 2021 There is an important reference point for…

소아 환자에서 WES/WGS, 언제부터 고려해야 할까? — 2021 ACMG 가이드라인 기반

4월 2, 2026

—

제공

외래에서 이런 환자들을 자주 만나게 됩니다. 검사를 진행하다 보면 CMA, single gene test, panel을 하나씩 해보지만 결국 진단에 도달하지 못하는 경우도 적지 않습니다. 이른바 “diagnostic journey”라고 부르는 상황이죠. 이미 2021년에 방향은 제시되어 있었다 이와 관련해 중요한 기준이 되는 문서가 있습니다.2021년 American College of Medical Genetics and Genomics에서 발표한 가이드라인입니다. 이 가이드라인의 결론은 비교적 명확합니다. “ES/GS는…

70 Patients Found New Answers Through Reanalysis of Genetic Testing: March 2026

3월 30, 2026

—

제공

Is a single genetic test result the end of the diagnostic journey?At 3billion, we believe diagnosis is an ongoing process. That’s why we focus not only on the test itself, but on what comes after:Reanalysis. For all cases previously reported as Inconclusive or Negative,3billion performs automated reanalysis through a continuous system.Each month, dozens of reports…

2026년 3월, 70명의 환자가 재분석을 통해 의미있는 결과를 받았어요!

3월 30, 2026

—

제공