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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.0K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
14.0K
Documentation of Nursing Diagnosis01:10

Documentation of Nursing Diagnosis

1.3K
The nurse documents nursing diagnoses and enters them into the patient record. The identified patient's nursing diagnosis is either written out with a plan of care or entered into the electronic health record.
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters...
1.3K
Classification of Illness01:17

Classification of Illness

7.8K
The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...
7.8K
Genomics02:02

Genomics

36.9K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.9K
Principles of Disease Surveillance01:26

Principles of Disease Surveillance

169
Disease surveillance is the systematic collection, analysis, and interpretation of health data essential to the planning, implementation, and evaluation of public health practice. This process integrates data dissemination to entities responsible for preventing and controlling disease, injury, and disability. Surveillance systems provide crucial information for action, helping public health authorities make informed decisions to manage and prevent outbreaks, ensure public safety, optimize...
169
Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

5.0K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
5.0K

You might also read

Related Articles

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

Sort by
Same author

Interdisciplinary Clinical Practice Guidelines for patient-centred management of juvenile-onset systemic lupus erythematosus.

EULAR rheumatology open·2026
Same author

Innate immune signaling as a potential pathomechanistic biomarker for distinct subtypes in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration·2026
Same author

Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.

Nature reviews. Nephrology·2026
Same author

Rare disease nomenclature and coding: challenges, systems, and policies in the global context.

Archives of medical research·2026
Same author

Beyond the interferon score: neurofilament light chain and glial fibrillary acidic protein capture immune-mediated neuroinjury and response to JAK inhibition in Aicardi-Goutières syndrome.

Frontiers in immunology·2026
Same author

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Molecular medicine (Cambridge, Mass.)·2026

Related Experiment Video

Updated: Aug 25, 2025

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

13.8K

[Uncovering rare diseases in medical data-coding].

Tamara Martin1, Kathrin Rommel2, Carina Thomas2

  • 1Zentrum für Seltene Erkrankungen und Institut für Medizinische Genetik und Angewandte Genomik, Universität und Universitätsklinikum Tübingen, Tübingen, Deutschland.

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
|October 14, 2022
PubMed
Summary

Germany is implementing ORPHAcode, a rare disease coding system, to improve data collection for rare disease incidence and prevalence. This initiative aims to enhance resource allocation and scientific knowledge generation for rare conditions.

Area of Science:

  • Public Health
  • Medical Informatics
  • Rare Diseases
Keywords:
Alpha-ID-SEDiagnosisHuman phenotype ontologyORPHAcodeRare diseases

More Related Videos

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

1.7K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.3K

Related Experiment Videos

Last Updated: Aug 25, 2025

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

13.8K
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

1.7K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.3K