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

Gene Therapy00:59

Gene Therapy

27.6K
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
27.6K
Group Therapy01:26

Group Therapy

450
Group therapy is a sociocultural approach to psychological treatment, where individuals with shared psychological challenges come together under the guidance of a mental health professional. This therapeutic modality offers unique opportunities for individuals to connect, share, and grow within the context of a supportive group. By fostering mutual understanding and collaboration, group therapy can address a range of psychological concerns effectively, often complementing or surpassing the...
450
Directing Effect of Substituents: meta-Directing Groups01:09

Directing Effect of Substituents: meta-Directing Groups

6.0K
Substituents on the benzene ring that direct an incoming electrophile to undergo substitution at the meta position are called meta directors. All meta directors either have a positive charge on the atom directly bonded to the ring or a partial positive charge. These groups function by withdrawing electrons from the ring through inductive and resonance effects. Consider the carbocation intermediates formed upon the addition of an electrophile on nitrobenzene at the...
6.0K
Directing Effect of Substituents: ortho–para-Directing Groups01:14

Directing Effect of Substituents: ortho–para-Directing Groups

8.5K
Ortho–para directors are substituent groups attached to the benzene ring and direct the addition of an electrophile to the positions ortho or para to the substituent. All electron-donating groups are considered ortho–para directors. They donate electrons to the ring and make the ring more electron-rich. The ring is therefore susceptible to the addition of electrophiles. Substituents such as amino, hydroxy, or alkoxy, containing lone pairs on the atom adjacent to the ring, donate...
8.5K
Cancer Therapies02:49

Cancer Therapies

10.2K
Cancer therapies are various modes of treatment, such as surgery, radiation therapy, and chemotherapy that are administered to cancer patients.
However, cancer treatments can pose several challenges, as therapies used to kill cancer cells are generally also toxic to normal cells. Moreover, cancer cells mutate rapidly and can develop resistance to chemical agents or radiation therapy. Besides, all types of cancer cells may not respond to the same therapy. Some cancer cells respond to one...
10.2K
Behavior Therapy01:22

Behavior Therapy

725
Behavior therapy incorporates diverse techniques rooted in classical conditioning principles to address maladaptive behaviors and anxiety disorders. These methods aim to reduce avoidance behaviors, foster adaptive coping mechanisms, and alter associations between stimuli and responses, making them effective in a wide range of therapeutic contexts.
Exposure therapy is a cornerstone of behavioral treatment for anxiety disorders. It involves systematic exposure to feared stimuli, either in real...
725

You might also read

Related Articles

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

Sort by
Same author

Oral and Swallowing Abilities Tool (OrSAT) in Individuals with Type I SMA Older than 24 Months: A Pilot Study.

Children (Basel, Switzerland)·2026
Same author

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.

Neurology·2025
Same author

Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.

Children (Basel, Switzerland)·2023
Same author

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.

Journal of clinical medicine·2023
Same author

Different trajectories in upper limb and gross motor function in spinal muscular atrophy.

Muscle & nerve·2021
Same author

Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients.

International journal of molecular sciences·2021

Related Experiment Video

Updated: Feb 5, 2026

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

7.1K

New Directions for SMA Therapy.

Sonia Messina1,2

  • 1Department of Clinical and Experimental Medicine, University of Messina, 98100 Messina, Italy. smessina@unime.it.

Journal of Clinical Medicine
|September 12, 2018
PubMed
Summary
This summary is machine-generated.

Spinal muscular atrophy (SMA), a severe genetic motor neuron disorder, is now treatable with nusinersen. This review covers SMA therapeutic strategies, including gene therapy and nusinersen, and their implications.

Keywords:
antisense oligonucleotidesgene therapynusinersenspinal muscular atrophytherapy

More Related Videos

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

14.4K
The Combined Use of Transcranial Direct Current Stimulation and Robotic Therapy for the Upper Limb
14:56

The Combined Use of Transcranial Direct Current Stimulation and Robotic Therapy for the Upper Limb

Published on: September 23, 2018

9.5K

Related Experiment Videos

Last Updated: Feb 5, 2026

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

7.1K
Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

14.4K
The Combined Use of Transcranial Direct Current Stimulation and Robotic Therapy for the Upper Limb
14:56

The Combined Use of Transcranial Direct Current Stimulation and Robotic Therapy for the Upper Limb

Published on: September 23, 2018

9.5K

Area of Science:

  • Neurology
  • Genetics
  • Pharmacology

Background:

  • Spinal muscular atrophy (SMA) is a severe genetic motor neuron disorder and a leading cause of childhood mortality.
  • It results from mutations in the survival motor neuron 1 (SMN1) gene, leading to reduced SMN protein and motor neuron degeneration.
  • Respiratory complications are the primary cause of death in SMA patients.

Purpose of the Study:

  • To review the history and challenges of therapeutic strategies for Spinal Muscular Atrophy (SMA).
  • To highlight the recent approval of nusinersen, the first disease-modifying treatment for SMA.
  • To discuss the ethical, medical, and financial implications of nusinersen licensing.

Main Methods:

  • Literature review of historical and recent studies on SMA therapeutics.
  • Analysis of clinical trial data for nusinersen and gene therapy approaches.
  • Discussion of regulatory approvals and their impact.

Main Results:

  • Nusinersen, an antisense oligonucleotide, is the first FDA and EMA approved disease-modifying treatment for SMA.
  • Gene therapy studies show promising results, offering hope for future treatments.
  • The introduction of nusinersen presents significant ethical, medical, and financial considerations.

Conclusions:

  • Nusinersen represents a breakthrough in SMA treatment, offering a disease-modifying approach.
  • Ongoing research into gene therapy and other strategies holds promise for improved SMA management.
  • Addressing the multifaceted implications of new SMA treatments is crucial for patient care and healthcare systems.