[카테고리:] 블로그 (Blog)

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…

About DRAVET SYNDROME DRAVET SYNDROME is a severe form of rare genetic seizure disorder, which symptoms include frequent and prolonged seizures.80~90% of its cases occur from mutations in the SCN1A gene on chromosome 2. PREVALENCE / ONSET Prevalence Dravet syndrome affects approximately 1 in 40,000 globally. It is estimated to affect 1 in 28,000 individuals in the…

A small change in tone or choice of words for you, or a few minutes to get to know the patient may seem trivial, but on the worst days of our patients’ lives, it can make all the difference. Effective communication between physicians and their patients is a key component of good medical practice. Enhancing…

Navigating the diagnostic journey for rare diseases can be complex and daunting for patients and their families. Often described as a “diagnostic odyssey,” this process involves extensive testing, consultations with multiple specialists, and a significant emotional toll before reaching a correct diagnosis. This article explores the intricacies of this journey, the role of advanced technologies,…

You probably have heard a lot that phenotyping plays a critical role in diagnosing rare disease patients. What is phenotyping and why does it matter so much? And since it is so important, how can it be done properly to support the diagnosis? What is phenotyping? The term “phenotype” refers to the set of observable…

Owing to the combined technology of massive parallel sequencing and bioinformatic analysis in a short time, the next-generation sequencing (NGS), has been widely used for disease diagnosis, prognosis, therapeutic decision, and follow-up of patients replacing the traditional genetic testing such as single gene testing using Sanger sequencing. Despite the fact that NGS has the strong points like…

About Crohn’s disease Crohn’s disease is a rare genetic disorder, a well-known type of inflammatory bowel disease (IBD). It is usually characterized by inflammation of the digestive system leading to abdominal pain, diarrhea, fatigue, weight loss, and malnutrition. The cause of Crohn’s disease is complex. By complex, it means that genetic, environmental, and lifestyle factors…

자폐스펙트럼을 진단 받은 환자가 4년 사이에 40%나 증가했다고 합니다. 자폐의 원인은 아직까지 명확하게 밝혀진 바가 없는데요. 특정 약물이다, 환경 문제다 여러 가지로 추측만 되고 있는 상황입니다. 또한 과거에 비해 진단 기준이 넓어진 점 역시 급증의 이유 중 하나로 꼽히고 있어요. 오늘은 갑론을박이 많은 주제, 자폐는 유전인지 아닌지에 대한 이야기를 해볼게요. 자폐란? 자폐(autism)는 발달 장애의 일종으로,…