Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Investigation of Disease Outbreaks01:23

Investigation of Disease Outbreaks

Multistate foodborne outbreaks pose significant public health risks and require meticulous investigation to identify sources and implement control measures. The Centers for Disease Control and Prevention (CDC) utilizes a dynamic seven-step process for these investigations, integrating data from laboratories, interviews, and environmental assessments to protect public health.Outbreak Detection: The detection of multistate outbreaks typically begins with PulseNet, the CDC's national laboratory...
Infectious Diseases and Their Occurrence01:28

Infectious Diseases and Their Occurrence

Infectious diseases appear in populations through various transmission patterns, influenced by pathogen characteristics, population immunity, environmental conditions, and social behavior. Understanding these patterns is essential for effective public health surveillance and intervention. These categories—sporadic, outbreak, epidemic, pandemic, and endemic—help frame the nature and scope of disease events.Sporadic diseases occur irregularly and infrequently, without a predictable temporal or...
Karyotyping01:17

Karyotyping

Overview

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Association of hyperuricemia with valvular heart disease and the modifying effect of obesity.

The Korean journal of internal medicine·2026
Same author

Development of Virtual Reality Health Literacy: Delphi Expert Consensus Study.

Journal of medical Internet research·2026
Same author

Quantifying the Independent and Combined Contributions of Clinical, Genetic, Proteomic, and Metabolomic Signals to ASCVD Prediction.

AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science·2026
Same author

Cellular immunology data enable clinical severity prediction via supervised machine learning.

iScience·2026
Same author

Six-Month Visual Outcomes in Pediatric Optic Neuritis: A Multicenter Study From South Korea.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society·2026
Same author

Genetic proxies of GLP1R expression are associated with lower risk of psoriasis and psoriatic arthritis.

The British journal of dermatology·2026

Related Experiment Video

Updated: May 14, 2026

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
07:35

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

Published on: October 13, 2023

Development of korean rare disease knowledge base.

Heewon Seo1, Dokyoon Kim, Jong-Hee Chae

  • 1Seoul National University Biomedical Informatics (SNUBI), Division of Biomedical Informatics, Seoul National University College of Medicine, Seoul, Korea. ; Systems Biomedical Informatics Research Center, Seoul National University, Seoul, Korea.

Healthcare Informatics Research
|January 25, 2013
PubMed
Summary

The Korean Rare Disease Knowledge base (KRDK) centralizes rare disease information for researchers and the public. This resource aids in understanding genetic disorders and facilitates clinical trial applications.

Keywords:
Genetic DatabasesKnowledge BasesKoreanOnline SystemsRare Diseases

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification
10:21

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification

Published on: September 20, 2024

Related Experiment Videos

Last Updated: May 14, 2026

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
07:35

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

Published on: October 13, 2023

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification
10:21

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification

Published on: September 20, 2024

Area of Science:

  • Genetics
  • Bioinformatics
  • Medical Informatics

Background:

  • Rare disease research is hampered by fragmented information, complicating the identification of genetic disorder causes.
  • A centralized, accessible resource is needed for clinicians and the public to find consistent rare disease information.

Purpose of the Study:

  • To develop a comprehensive, web-based knowledge base for rare diseases in Korea.
  • To support research into Mendelian diseases and genetic disorders.

Main Methods:

  • Designed a compact, optimized database schema for efficient querying of heterogeneous data.
  • Integrated genomic resources, clinical trials, and expert-reviewed information from Seoul National University Hospital.
  • Developed a web-based platform for accessing rare disease data.

Main Results:

  • Created the Korean Rare Disease Knowledge base (KRDK), a web-based resource for Mendelian diseases prevalent in Korea.
  • KRDK includes disease summaries, causal genes, clinical directories, and patient registries.
  • Integrated databases for human biological information analysis and clinical trial management.

Conclusions:

  • KRDK is the first rare disease knowledge base in Korea, expected to foster collaborative research and clinical trial applications.
  • The knowledge base provides drug information, enabling searches for rare diseases related to specific drugs.
  • KRDK is accessible at http://www.snubi.org/software/raredisease/.