[카테고리:] 블로그 (Blog)
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How to communicate with your patients: 7 practical tips
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…
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Understanding the Diagnostic Odyssey in Rare Disease Diagnosis: Journey, Challenges, and Solutions
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,…
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Why phenotypes matter for genetic testing?
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…
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Limitation of NGS: Spinal Muscular Atrophy (SMA) Genetic testing
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…
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Crohn’s disease | Symptoms, Genetic Testing
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…
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자폐(자폐스펙트럼)은 유전인가요?
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,…
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Limitation of Microarrays : Rare disease diagnosis
When it comes to the diagnosis of rare diseases, the advancements in genetic testing technologies have opened up new possibilities. Microarray testing, a powerful tool in genetic analysis, offers valuable insights into the genetic landscape of individuals with undiagnosed conditions. However, it’s important to acknowledge that like any diagnostic method, microarray also has its limitations.…
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NGS(Next Generation Sequencing)
안녕하세요, 희귀질환 진단 기업 쓰리빌리언입니다. NGS(Next Generation Sequencing) NGS란 Next Generation Sequencing의 약자로, 차세대 염기서열분석이라고도 합니다. 기존에 사용되던 방식은 직접 염기서열분석법으로, 분석하고자 하는 부위를 PCR 증폭해야 해서 목표 범위가 넓어질 경우 많은 시간과 노력, 비용이 소모되어 낮은 효율성을 가지고 있었는데요. NGS 검사는 DNA 가닥을 각각 하나씩 분석함으로써 기존의 직접 염기서열분석법에 비해 매우 빠르고 저렴하게 염기서열이 가능하다는 장점이…
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What is Variant Specific Testing?
Once a patient is diagnosed, it can be recommended for family members such as parents or siblings to be tested using a Variant Specific Test. What is a Variant Specific Test (VST)? What is its purpose? What are its benefits? Let’s take a closer look. What is Variant Specific Testing? A Variant Specific Test (VST)…
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Rare Diseases in Movies: The Life of Patients with Rare Diseases
Do You Ever Wonder About the Lives of Patients with Rare Diseases? Although a “rare disease” can mean different things, it generally refers to a disease affecting a small population. The WHO defines a rare disease as one that affects less than 65 people per 100,000, while the EU defines it as a disease that…