BlogDiscover Insightful Articles on Rare Diseases

Sookjin Lee
Expert in integrating cutting-edge genomic healthcare technologies with market needs. With 15+ years of experience, driving impactful changes in global healthcare.
Solving Undiagnosed Cases with Long-Read Sequencing (Part 1): Finding the Missing Variant in Autosomal Recessive Disease
Insights | 26. 07. 22
ICD-10 Metabolic Encephalopathy: What the Code G93.41 Means
Rare disease series | 26. 07. 14
Reproductive Genetic Carrier Screening (RGCS): When and Who to Recommend It To — A Clinical Guide from 5 Year Outcome Data
Insights | 26. 07. 02
Genomic Newborn Screening (gNBS) Caught 8 Cases Conventional Tests Missed — A 9,992-Newborn WGS Cohort From Qingdao
Genetic test | 26. 06. 27
[Clinical Insight] “Rarely Diagnosed, Not Rare” – An Interview with Dr. Dmytro Tokariev
Interview | 26. 06. 26
Hereditary Cancer Germline Testing Across 21 European Countries: Why the Same Patient Can Receive a Different Diagnosis
Insights | 26. 06. 21