BioProject ID : KAP220128
|Project title : Genome based Personal Medicine for Korean Rare Developmental Disease
Name | Kim Nam-Soon |
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Organization | Korea Research Institute of Bioscience and Biotechnology (KRIBB) |
Department | Rare Disease Research Center |
Registration Date | 2022-01-17 |
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NTIS Number | 1711126880 |
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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 |
Umbrella Project | KAU200000 |
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PubMed ID | |
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DOI |
BioSample Accession ID |
Project Title
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Sample Type
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Registration Date
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KASG220164 | Blood samples of Korean Rare Disease patients | Human sample | 2022-01-17 |
KASG220163 | Blood samples of Korean Rare Disease patients | Human sample | 2022-01-17 |
KASG220161
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This is an assignment that cannot be disclosed yet.
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Blood samples of Korean Rare Disease patients | Human sample | 2022-01-17 |
KASG220162
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This is an assignment that cannot be disclosed yet.
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Blood samples of Korean Rare Disease patients | Human sample | 2022-01-17 |
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