KoNA

Summary 내용시작

Submitter

Submitter

Submitter를 안내합니다.

Name	Kim Nam-Soon
Organization	Korea Research Institute of Bioscience and Biotechnology (KRIBB)
Department	Rare Disease Research Center

Date

Date

Date를 안내합니다.

Registration Date	2022-01-17

Project Design

Project Design

Project Design를 안내합니다.

NTIS Number	1711126880
Project Title	Genome based Personal Medicine for Korean Rare Developmental Disease
Relevance	medical
Description	○ Development of korean genome mutation maps for early diagnosis and gene therapy of rare diseases ○ Development of early diagnosis and gene therapy based on genome mutations for 4P medicine ○ Securement of Rare disorder specimens - Securement of korean hereditary rare diseases specimens such as HSP, TS and LGS with definite clinical informations - Securement of Trio specimens for rare diseases ○ Establishment of genome big data and korean genome mutation map for rare diseases - Standardization of genome informations and development of analytical tools - Establishment of database and genome mutation map for korean hereditary rare diseases - Validation and excavation of genome mutation for customized diagnosis and therapy ○ Development of diagnosis source technology for rare diseases - Screening of bio-markers for diagnosis for rare diseases ○ Development of therapy source technology for rare diseases - Study of functions/ pathways for targets : disease models (mouse/primates), siRNA, gene editing tools ○ Practical development of diagnosis/ treatment materials for rare diseases
Project Data Type *	Exome
Sample Scope *	Multiisolate

Hierarchy

Hierarchy

Hierarchy를 안내합니다.

Umbrella Project	KAU200000

Publications

Publications

Publications를 안내합니다.

PubMed ID
DOI