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

Inflammatory Bowel Disease II: Crohn's Disease01:30

Inflammatory Bowel Disease II: Crohn's Disease

1.1K
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
1.1K
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

2.4K
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
2.4K
Targeted Cancer Therapies02:57

Targeted Cancer Therapies

8.9K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
8.9K
Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

1.2K
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
1.2K
Alzheimer's Disease: Treatment01:22

Alzheimer's Disease: Treatment

963
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
963
Principles of Disease Surveillance01:26

Principles of Disease Surveillance

560
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...
560

You might also read

Related Articles

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

Sort by
Same journal

Selective <i>in vitro</i> anti-cancer activity of non-alkylating minor groove binders.

MedChemComm·2020
Same journal

Derivatisation of parthenolide to address chemoresistant chronic lymphocytic leukaemia.

MedChemComm·2020
Same journal

A focused structure-activity relationship study of psoralen-based immunoproteasome inhibitors.

MedChemComm·2020
Same journal

Characterization of the genomically encoded fosfomycin resistance enzyme from <i>Mycobacterium abscessus</i>.

MedChemComm·2020
Same journal

Indole compounds with <i>N</i>-ethyl morpholine moieties as CB2 receptor agonists for anti-inflammatory management of pain: synthesis and biological evaluation.

MedChemComm·2020
Same journal

The cytotoxic potential of cationic triangulenes against tumour cells.

MedChemComm·2020

Related Experiment Video

Updated: Feb 6, 2026

Author Spotlight: Advancing Metabolomics Analysis of Rare Hematopoietic Stem Cells
08:28

Author Spotlight: Advancing Metabolomics Analysis of Rare Hematopoietic Stem Cells

Published on: February 23, 2024

2.5K

Targeting rare diseases

    Medchemcomm
    |August 16, 2018
    PubMed
    Summary

    Focusing on rare genetic mutations, even those affecting few individuals, is a viable research strategy. Such studies are crucial for understanding disease mechanisms and developing targeted therapies for underserved populations.

    Area of Science:

    • Genetics and genomics
    • Rare disease research
    • Molecular biology

    Background:

    • Investigating genetic mutations with low prevalence presents unique challenges.
    • Understanding the genetic basis of rare diseases is critical for medical advancement.
    • The study explores the strategic value of focusing on infrequent genetic variations.

    Discussion:

    • Despite low frequency, these mutations can reveal fundamental biological pathways.
    • Research into rare genetic conditions can yield insights applicable to broader populations.
    • The potential for significant therapeutic breakthroughs justifies the focus on rare mutations.

    Key Insights:

    • Rare genetic mutations offer valuable insights into complex biological systems.
    • Targeted research on infrequent genetic variations can lead to novel therapeutic strategies.

    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

    14.4K
    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
    09:34

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

    Published on: April 4, 2018

    34.8K

    Related Experiment Videos

    Last Updated: Feb 6, 2026

    Author Spotlight: Advancing Metabolomics Analysis of Rare Hematopoietic Stem Cells
    08:28

    Author Spotlight: Advancing Metabolomics Analysis of Rare Hematopoietic Stem Cells

    Published on: February 23, 2024

    2.5K
    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

    14.4K
    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
    09:34

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

    Published on: April 4, 2018

    34.8K
  • The impact of rare genetic diseases necessitates dedicated scientific investigation.

    • Outlook:

    • Continued research into rare genetic mutations will expand our understanding of human health.
    • Advancements in genomic technologies facilitate the study of low-prevalence genetic conditions.
    • Future therapeutic developments may arise from exploring these unique genetic landscapes.