[카테고리:] 블로그 (Blog)

Until now, we have mainly talked about the Whole Exome Sequencing (WES) -based diagnostic tests. However, as introduced in the ‘Limitation of Whole Exome Sequencing’, there are several limitations that exist with WES. Some exon regions are not covered well during target enrichment and PCR amplification processes of sequencing, and structural variants (SV) analysis with…

How hereditary diseases changed our history—from ancient Egypt and the House of Habsburg to the House of Romanov Introduction Whether in the East or the West, humankind has taken a keen interest in heredity and genetic diseases from ancient to modern times. A typical example of this is the theory of heredity and hereditary disease…

As a medical professional, staying informed and connected with the latest advancements in the field is crucial. Doctors(Physicians) often rely on various websites to access medical resources, research articles, clinical guidelines, and educational content. In a poll of over 2,200 physicians, 33% said they reference a medical website daily, and 48% reference it two-three times…

Sequencing Depth vs Coverage Physicians and researchers often consider the comparison between sequencing depth and coverage when performing genetic or genomic analyses for several reasons. While these terms are related, they provide different insights into the quality and reliability of the sequencing data. Understanding their implications helps ensure accurate and meaningful results for clinical and research purposes.…

오늘은 2월 29일 희귀질환의 날입니다. 세계 인구 중 4%, 약 3억 명이 희귀질환을 앓고 있다고 알려져 있습니다. 하지만 사회적 인식과 전문가, 진단 및 치료 기술의 부족으로 인해 정확하게 진단 받고 적절한 약물과 재활 치료로 이어지는 경우는 매우 적은 상태입니다. 희귀질환의 날은 희귀 질환에 대해 연대하는 세계적인 운동으로, 사회적 기회, 의료, 그리고 희귀질환 환자들의 진단 및…

슬기로운 진단생활은 희귀질환 환자를 마주하는 의사 선생님을 찾아가 현장의 이야기를 들어보는 기획 인터뷰입니다. 실제 임상 현장에서 희귀질환 유전자 검사가 어떻게 활용되고 있는지, 개선되어야 할 점은 어떤 것들이 있는지 청취하고 그를 바탕으로 좀 더 나은 서비스를 제공하고자 시작되었습니다. 두번째 손님은 강남 세브란스 병원 한진우 교수님입니다. 한진우 교수님은 소아 안질환 전문가이자 유전학 전문가입니다. 강남세브란스 병원에서 8월 29일…

3billion collaborates with pharmaceutical companies to help with personalized drug prescriptions. We will look into a few cases of patients who were diagnosed with Fabry disease in a diagnostic program for this disease operated through collaboration in 2022. The cases will be introduced through an interview with Professor Ji-Hee Kim who diagnosed Fabry disease. *This…

In 2021, the American College of Medical Genetics and Genomics (ACMG) suggested the following: “We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID”, where ES/GS means exome sequencing and genome sequencing, respectively. Here, CA, DD, ID means congenital anomalies, developmental delay, and intellectual disability, respectively. There are two main…

The third guest of Good Doctor Season 1 is Professor Jinu Han from Gangnam Severance Hospital. Professor Jinu Han is a specialist in pediatric eye diseases and genetics. He has been working towards improving diagnosis of rare eye disease patients with 3billion. Chief Business Officer (CBO) Genie Lee and Chief Medical Officer (CMO) Gohun Seo…