• 한국동물학회:학술대회논문집
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• 한국동물학회 2001년도 한국생물과학협회 학술발표대회
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• pp.107.2-108
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• 2001

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• Childhood Kidney Diseases
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• 제27권1호
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• pp.11-18
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• 2023

Remarkable advances in genetic diagnosis expanded our knowledge about inherited tubulopathies and other genetic kidney diseases. This review suggests a simple categorization of inherited tubular disease, clarifies the concept of autosomal dominant tubulointerstitial kidney disease (ADTKD), and introduces novel therapies developed for tubulopathies. Facing patients with suspicious tubular disorders, clinicians should first evaluate the status of volume and acid-base. This step helps the clinicians to localize the affected segment and to confirm genetic diagnosis. ADTKD is a recently characterized disease entity involving tubules. The known causative genes are UMOD, MUC1, REN, and HNF1β. Still, only half of ADTKD patients show mutations for these four identified genes. Whole exome sequencing is a suitable diagnostic tool for tubulopathies, especially for ADTKD. Genetic approaches to treat tubulopathies have progressed recently. Despite the practical obstacles, novel therapies targeting inherited tubulopathies are currently in development.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.1-5
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• 2015

De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.

• Genomics & Informatics
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• 제19권4호
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• pp.36.1-36.11
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• 2021

Predicting individual traits and diseases from genetic variants is critical to fulfilling the promise of personalized medicine. The genetic variants from genome-wide association studies (GWAS), including variants well below GWAS significance, can be aggregated into highly significant predictions across a wide range of complex traits and diseases. The recent arrival of large-sample public biobanks enables highly accurate polygenic predictions based on genetic variants across the whole genome. Various statistical methodologies and diverse computational tools have been introduced and developed to computed the polygenic risk score (PRS) more accurately. However, many researchers utilize PRS tools without a thorough understanding of the underlying model and how to specify the parameters for the best performance. It is advantageous to study the statistical models implemented in computational tools for PRS estimation and the formulas of parameters to be specified. Here, we review a variety of recent statistical methodologies and computational tools for PRS computation.

• Clinical and Experimental Reproductive Medicine
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• 제38권3호
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• pp.126-134
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• 2011

Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence $in-situ$ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.

• 한국정보통신학회:학술대회논문집
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• 한국정보통신학회 2017년도 추계학술대회
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• pp.602-604
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• 2017

인간의 수명이 늘어남에 따라 사람들은 건강하게 오래살고 싶은 욕구가 생기게 되었다. 특히 한국은 빠른 속도로 고령화 사회에 진입하였고, 고령화에 따른 질병의 증가로 의료비의 부담으로 이어졌다. 의료비 부담을 줄이기 위해 병의 치료보다는 예측과 예방이 중요하다. 개인의 유전자 정보를 측정하여 질병의 예측 및 예방을 할 수 있다. 개인의 유전자정보를 이용하기 위해서 한국인 질병과 표현형의 유전요인 발굴에 최적화된 SNP(80만개)과 GWAS를 통해 한국인의 유전정보를 파악하고 특정 집단의 유전적(체질적) 특성으로 각 개인의 유전자 정보를 분석한다. 본 논문은 특정 만성질환(비만, 당뇨 또는 심혈관계)집단을 분류할 수 있도록 분류 인덱스를 개발한다. 만성질환에 따른 맞춤식단 및 운동 관리를 위한 건강관리 서비스를 개발하고자한다.

• 한국컴퓨터정보학회논문지
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• 제28권3호
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• pp.111-117
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• 2023

구강은 전신건강을 들여다 볼 수 있는 창문이자 많은 유해균이 들어오는 관문이기도 하다. 우리 몸에 있어서 아주 중요한 부분이다. 유전자 검사는 구강 내 세균을 검사하여 빅 데이터 AI 알고리즘 분석을 통해 우리 몸에 발생할 수 있는 전신질환까지 예측하여 예방 관리를 체계적으로 할 수 있다는 가장 큰 장점이 있다. 이에 본 논문은 연구자 가족이 직접 유전자 검사를 수행하여 결과를 도출해 보고자 한다. 본 연구는 2022년 11월 연구자 가족 4명이 서울시에 소재한 예방치과진료실 J치과의원에서 치과의사 1명, 치과위생사 1명에게 사전설명을 듣고 동의서 작성 후 구강검사와 유전자 검사를 수행하였다. 성인은 Dr.^***으로 중·초등학생은 He^***** 제품으로 유전자 검사를 하였다. 현재 우리나라에서 진행하고 있는 유전자 검사는 대상자가 피를 뽑지 않고 비교적 쉽게 접근할 수 있는 장점도 있지만, 시간, 비용 등 한계점도 있다. 그럼에도 불구하고 구강 내 미생물을 통해 전신질환을 예측할 수 있다는 점에서는 높이 평가할 부분이라고 생각한다.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.55-63
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• 2018

Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.

• Journal of Genetic Medicine
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• 제5권2호
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• pp.89-93
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• 2008

"Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the $21^{st}$ century "genomic era." This is especially true in Korea, where provisions for clinical genetic services are inadequate for the existing demand, let alone future demands. Genomics-based knowledge and tools make it possible to approach each patient as a unique biological individual, which has led to a paradigm-shift in medical practice, giving it more of a predictive focus as compared with current treatment oriented approach. With recent advancements in genomics, many genetic tests, such as susceptibility genetic tests, have been developed for both rare single gene diseases and more common multifactorial diseases. Indeed, genetic tests for presymtomatic individuals and genetic tests for drug response have become widely available, and personalized medicine will face the challenge of assisting patients who use such tests to make appropriate and wise use of genetic risk assessment. A major challenge of genomic medicine lies in understanding and communicating disease risk in order to facilitate and support patients and their families in making informed decisions. Establishment of a health care system with provisions for genetic counseling as an integral part of health care service, in addition to genomic literacy of health care providers, is vital to meet this growing challenge. Realization of the promise of personalized medicine in the era of genomics for improvement of health care is dependent on further development of next generation sequencing technology and affordable sequencing test costs. Also necessary will be policy development concerning the ethical, legal and social issues of genomic medicine and an educated and ready medical community with clinical practice guidelines for genetic counseling and genetic testing.

• BMB Reports
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• 제55권6호
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• pp.251-258
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• 2022

Innovative genome editing techniques developed in recent decades have revolutionized the biomedical research field. Liver is the most favored target organ for genome editing owing to its ability to regenerate. The regenerative capacity of the liver enables ex vivo gene editing in which the mutated gene in hepatocytes isolated from the animal model of genetic disease is repaired. The edited hepatocytes are injected back into the animal to mitigate the disease. Furthermore, the liver is considered as the easiest target organ for gene editing as it absorbs almost all foreign molecules. The mRNA vaccines, which have been developed to manage the COVID-19 pandemic, have provided a novel gene editing strategy using Cas mRNA. A single injection of gene editing components with Cas mRNA is reported to be efficient in the treatment of patients with genetic liver diseases. In this review, we first discuss previously reported gene editing tools and cases managed using them, as well as liver diseases caused by genetic mutations. Next, we summarize the recent successes of ex vivo and in vivo gene editing approaches in ameliorating liver diseases in animals and humans.