이지수 교수
Jee-Soo Lee
서울대학교 · 공학
연구실 소개
이지수 교수의 연구실은 암, 유전성 신경질환, 혈액질환 등 다양한 질환의 분자 기반 진단 및 치료 전략 개발을 목표로 합니다. 특히 순환 종양 DNA(ctDNA)를 활용한 췌열선암의 조기 진단 및 예후 평가, CMT1A와 같은 유전성 신경병증의 유전자 치료 기법 개발, 그리고 헤모글로빈 합성 장애인 탈라세미아의 유전자 변이 분석 등 정밀의료와 유전자 기반 진단 기술에 초점을 맞추고 있습니다. 최근에는 CRISPR/Cas9 기반 유전자 편집을 활용한 질환 모델에서의 유전자 발현 조절 기법도 성공적으로 적용하고 있습니다.
연구 현황
연구 성과 추이
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주요 논문
15Reliable biomarkers are required to evaluate and manage pancreatic ductal adenocarcinoma. Circulating tumor cells and circulating tumor DNA are shed into blood and can be relatively easily obtained from minimally invasive liquid biopsies for serial assays and characterization, thereby providing a unique potential for early diagnosis, forecasting disease prognosis, and monitoring of therapeutic response. In this review, we provide an overview of current technologies used to detect circulating tum
Reinfection with a genetically distinct SARS-CoV-2 strain may occur in an immunocompetent patient shortly after recovery from mild COVID-19. SARS-CoV-2 infection may not confer immunity against a different SARS-CoV-2 strain.
Charcot-Marie-Tooth 1A (CMT1A) is the most common inherited neuropathy without a known therapy, which is caused by a 1.4 Mb duplication on human chromosome 17, which includes the gene encoding the peripheral myelin protein of 22 kDa (PMP22). Overexpressed PMP22 protein from its gene duplication is thought to cause demyelination and subsequently axonal degeneration in the peripheral nervous system (PNS). Here, we targeted TATA-box of human PMP22 promoter to normalize overexpressed PMP22 level in
We suggest that mutations in ADSSL1 are the novel genetic cause of the autosomal recessive adolescent onset distal myopathy. This study broadens the genetic and clinical spectrum of distal myopathy and will be useful for exact molecular diagnostics.
In managing patients with coronavirus disease 2019 (COVID-19), early identification of those at high risk and real-time monitoring of disease progression to severe COVID-19 is a major challenge. We aimed to identify potential early prognostic protein markers and to expand understanding of proteome dynamics during clinical progression of the disease. We performed in-depth proteome profiling on 137 sera, longitudinally collected from 25 patients with COVID-19 (non-severe patients, n = 13; patients
Structureless patterns or globules/clods with purple, red, or blue coloration can be useful findings when differentiating VLs from LMM on dermoscopy. Therefore, dermoscopic evaluation is a helpful noninvasive ancillary tool in the diagnosis of VL.
Thalassemia is the most common form of hereditary anemia. Here, we aimed to investigate the 13-year trend of the epidemiologic profiles and risk of comorbidities in thalassemia using a nationwide population-based registry in Korea. Diagnosis of thalassemia, the comorbidities and transfusion events in patients with thalassemia were identified in the Korean National Health Insurance database, which includes the entire population. The prevalence of thalassemia increased from 0.74/100,000 in 2006 to
The general public of Korea preferred rationing scarce medical resources in the COVID-19 pandemic predominantly based on utilitarianism, identity and prioritarianism, rather than egalitarianism. Further research is needed to explore the reasons for discrepancies between public preferences and ethicists' recommendations.
Circulating tumor DNA (ctDNA) has emerged as a promising tool for various clinical applications, including early diagnosis, therapeutic target identification, treatment response monitoring, prognosis evaluation, and minimal residual disease detection. Consequently, ctDNA assays have been incorporated into clinical practice. In this review, we offer an in-depth exploration of the clinical implementation of ctDNA assays. Notably, we examined existing evidence related to pre-analytical procedures,
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants of concern have been emerging. However, knowledge of temporal and spatial dynamics of SARS-CoV-2 is limited. This study characterized SARS-CoV-2 evolution in immunosuppressed patients with long-term SARS-CoV-2 shedding for 73-250 days, without specific treatment. We conducted whole-genome sequencing of 27 serial samples, including 26 serial samples collected from various anatomic sites of two patients and the first positive sa
Oral tofacitinib monotherapy improves nail involvement associated with AA. Nail involvement is not a poor prognosis factor in hair regrowth with tofacitinib treatment and there is no evident relationship between nail and hair responses.
Women in Suwon (Korea) were found to have a better profile of biophysical parameters than women in the 3 Chinese cities, which might be attributed to cosmetic habits, besides age and climatic factors. The fact that appropriate cosmetic habits are associated with favorable skin biophysical parameters underscores the importance of daily skin care routine in preserving skin functions.
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