KoNA

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Submitter

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Name	Kang Hoon Chul
Organization	Yonsei University Industry-Academic Cooperation Foundation
Department	Yonsei University Industry-Academic Cooperation Foundation

Date

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Registration Date	2022-04-12

Project Design

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NTIS Number	-
Project Title	Identification of somatic mutations in malformed brain inducing epilepsy and development of diagnostic technology by using next generation sequencing
Relevance	medical
Description	"□ Stage 1 (2015-2016) Establishment of clinical cohort and genetic banking system of brain malformed patients causing epilepsy and discovery of somatic mutations ○ Establish a cohort of clinical samples and clinical data of brain tissue and blood that causes epilepsy, and establish a genetic DNA quality management system using genetic banks. ○ Using whole exome sequencing (hereinafter referred to as WES), the somatic mutation that causes epilepsy was first explored and discovered. □ Step 2 (2016-2017) Additional discovery of somatic mutations and biological verification ○ In addition to whole genome sequencing (WGS) for non-coding region search in brain tissue where somatic mutations have not been discovered in the primary search, somatic mutations are further explored and discovered using single cell sequencing. ○ Molecular biological and histopathological function verification according to the metabolic pathway of discovered somatic mutations and an animal model using electrical perforation method are constructed to reproduce epilepsy-induced brain deformities. □ 3rd stage (2017-2018) Genetic diagnostic technology development and preclinical verification ○ Molecular genetic verification was performed by developing an NGS-based diagnostic gene panel for early diagnosis of epilepsy-induced cerebral deformity. ○ Re-verified the usefulness of the diagnostic gene panel through preliminary clinical research."
Project Data Type *	Exome
Sample Scope *	Multiisolate

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Umbrella Project	-

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