[카테고리:] 블로그 (Blog)

희귀질환 환자와 그 가족의 삶을 궁금해해 본 적 있나요? WHO는 희귀질환을 10만 명당 65명 미만에게 영향을 미치는 질환으로 정의하고, EU는 2,000명 중 1명 미만에게 영향을 미치는 질환으로 정의합니다. 하지만 전 세계적으로 약 4억 명의 사람들이 다양한 희귀질환으로 고통받고 있는 것으로 알려져 있습니다. 현재까지 확인된 희귀질환은 7,000여 가지가 넘고 질환의 종류도 다양하지만, 각 질환의 유병률은 매우 낮습니다.…

Although many are struggling, the initial diagnosis rate of rare diseases remains low. It is because there is still insufficient information and the symptoms are very diverse. Therefore, diagnosis of rare diseases should not be limited to a single analysis, so the importance of reanalysis is inevitably greater. In this article, we will take a…

‘The Good Doctors’ is a programmed series of interviews to meet doctors who face patients with rare diseases every day and hear their stories on site. These interviews were planned to help us provide better insight for physicians by recording how genetic testing for rare diseases is conducted, how it’s used at clinical sites, and…

In Feb 2019, 3billion launched genetic testing services for rare disease diagnoses based on whole exome sequencing (WES) technology. Since then, more than 40,000 patients have been sequenced at 3billion and approximately 45% of these patients have completed their diagnostic journey with us by receiving a clear molecular diagnosis. However, there are still 55% of…

Recently, WES/WGS tests have become more widely used to diagnose patients with rare diseases. Even if the same WES method is performed on the same patient, the final result may be different depending on the entity. Why is there a difference? What should be considered when choosing? We will look at the main factors that…

Getting genetic testing for pediatric disorders isn’t really a common situation, but it can happen at any time. Genetic testing in the context of pediatric disorders involves analyzing a child’s DNA to identify genetic changes or mutations that may cause or contribute to various health conditions. This testing is essential for diagnosing a wide range of genetic…

What is mitochondrial disease? Mitochondria is a small worm-like organelle that performs cellular respiration called oxidative phosphorylation. Oxidative phosphorylation is a complex biochemical pathway that produces the majority of cellular ATP used by a cell using a series of protein complexes and small molecules called electron transport chains (ETCs)1. Therefore, dysfunction in mitochondria often affects…

안녕하세요, 희귀 유전질환 진단을 돕는 쓰리빌리언입니다. 오늘은 병원에서 권하는 아이 유전자 검사에 대해 많이 물어봐주시는 내용들에 대한 답변을 가지고 왔어요. (신생아 선별 검사에 대한 내용은 아닙니다!) 낯선 검사가 어려우셨던 분들께서 이해하시는데에 도움이 되었으면 좋겠습니다. 아이 유전자 검사는 왜 하나요? 의료진의 판단 하에 유전질환일 가능성이 높은 경우, 병원에서는 아이에게 (혹은 부모님도 함께) 유전자 검사를 권하게 됩니다.…

In a previous post, we examined how QC is performed for a WES test for rare disease diagnosis. If QC fails, sequencing cannot proceed as usual, so 3billion will request another sample. In this case, it inevitably takes 2-3 more weeks and more money due to additional sample collection and shipping, so it could feel like a…

Noonan Syndrome is a genetic disorder that affects various parts of the body. It is characterized by distinctive facial features, developmental delays, and potential heart defects, among other symptoms. 3billion, which offers genetic testing for rare diseases, has also provided many reports of diagnoses with Noonan syndrome. In this article, we delve into the role of…