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

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
Mismatch Repair01:20

Mismatch Repair

5.1K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
5.1K
Mutagenicity and Carcinogenicity01:25

Mutagenicity and Carcinogenicity

1.3K
Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...
1.3K
Treatment Resistant Cancers02:56

Treatment Resistant Cancers

3.4K
Cancer is the second leading cause of death in the United States. A cancer cell is genetically unstable and hence can mutate faster. They can also modify their microenvironment and escape immune surveillance. The difficulties in treating cancer are further compounded by the emergence of rapid resistance to anticancer drugs. The most common ways to attain resistance in cancer cells include alteration in drug transport and metabolism, modification of drug target, elevated DNA damage response, or...
3.4K
Targeted Cancer Therapies02:57

Targeted Cancer Therapies

7.8K
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...
7.8K

You might also read

Related Articles

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

Sort by
Same author

Addressing the needs of nano-rare patients: the n-Lorem experience.

Nucleic acids research·2026
Same author

Disease insights from brain somatic mosaicism.

Experimental & molecular medicine·2026
Same author

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Nature·2026
Same author

When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment.

Trends in genetics : TIG·2026
Same author

Developmental organization of sensory and sympathetic ganglia.

Nature·2026
Same author

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Nature genetics·2026
Same journal

AI-driven therapeutic antisense oligonucleotide for processing-deficient progeroid laminopathies.

Med (New York, N.Y.)·2026
Same journal

Advanced cholangiocarcinoma in 2025: Therapeutic sequencing and global implementation.

Med (New York, N.Y.)·2026
Same journal

Atlas of human brain imaging-derived phenotypes and disease risk.

Med (New York, N.Y.)·2026
Same journal

Withdrawal effects following treatment discontinuation: A blind spot in evidence-based medicine.

Med (New York, N.Y.)·2026
Same journal

Rethinking parenteral nutrition as supportive therapy for neonatal sepsis.

Med (New York, N.Y.)·2026
Same journal

Power and sample-size estimation in human microbiome research.

Med (New York, N.Y.)·2026
See all related articles

Related Experiment Video

Updated: Aug 22, 2025

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.7K

Evaluating human mutation databases for "treatability" using patient-customized therapy.

Swapnil Mittal1, Isaac Tang1, Joseph G Gleeson1

  • 1Department of Neurosciences and Pediatrics, University of California San Diego, La Jolla, CA 92093, USA; Rady Children's Institute of Genomic Medicine, San Diego, CA 92123, USA.

Med (New York, N.Y.)
|November 12, 2022
PubMed
Summary
This summary is machine-generated.

Genetic variants identified through genome sequencing can often be treated with antisense oligonucleotides (ASOs). Approximately half of pathogenic variants present opportunities for ASO therapy, enhancing clinical benefit.

Keywords:
(LoF)NMD exonTANGOantagoNATscassette exonsgain of function (GoF)gap-mersloss of functionpersonalized medicinephased haplotypepseudogenes

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.2K

Related Experiment Videos

Last Updated: Aug 22, 2025

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.7K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.2K

Area of Science:

  • Genetics
  • Pharmacogenomics
  • Molecular Biology

Background:

  • Clinical genome sequencing provides molecular diagnoses but often overlooks variant treatability.
  • Evaluating pathogenicity alone limits the clinical utility of genomic findings.
  • Antisense oligonucleotides (ASOs) represent a promising therapeutic platform for genetic disorders.

Purpose of the Study:

  • To assess the landscape of variants treatable by ASOs.
  • To determine the proportion of pathogenic variants amenable to ASO-based therapies.
  • To highlight the potential of considering "treatability" in genomic interpretation.

Main Methods:

  • Analysis of public variant databases.
  • Identification of variant types targetable by ASOs (e.g., splice-gain, loss-of-function).
  • Assessment of ASO therapeutic potential across diverse variant categories.

Main Results:

  • A significant proportion of pathogenic variants are potentially treatable with ASOs.
  • ASOs can target various transcriptomic elements, including splice sites and regulatory regions.
  • New ASO applications are emerging for different types of genetic effects.

Conclusions:

  • Considering "treatability" alongside pathogenicity is crucial for maximizing genomic sequencing benefits.
  • ASO therapy offers a viable treatment avenue for a substantial subset of genetic variants.
  • Future clinical practice may integrate treatability assessments into genomic interpretation workflows.