Related Experiment Video

Updated: Oct 21, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.2K

Therapeutics Development for Alagille Syndrome

Phillip Sanchez1, Atena Farkhondeh1, Ivan Pavlinov1

  • 1National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, United States.

Frontiers in Pharmacology
|September 9, 2021
PubMed

Insights

Treatments for Alagille Syndrome (ALGS), a rare genetic disorder, are limited. This review explores emerging technologies and strategies to develop targeted therapies for ALGS, addressing underlying causes rather than just symptoms.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pharmacology

Background:

  • Alagille Syndrome (ALGS) is a rare genetic disorder with slow treatment advancements.
  • Mutations in JAG1 and NOTCH2 genes cause ALGS, presenting a challenge for targeted therapies.
  • Current ALGS treatments manage symptoms, not the root cause.

Purpose of the Study:

  • To review current and potential technologies for developing targeted ALGS therapies.
  • To identify strategies that could significantly advance ALGS treatment.
  • To address the limitations of existing ALGS management.

Main Methods:

  • Literature review of current and emerging therapeutic technologies for ALGS.
  • Analysis of the role of Notch signaling pathway in ALGS and cancer.
  • Evaluation of strategies for targeting the underlying genetic causes of ALGS.

Main Results:

  • The review identifies several promising technologies and strategies for ALGS therapy development.
  • The complexity of JAG1 and NOTCH2 mutations requires innovative therapeutic approaches.
  • Exclusion of traditional cancer therapies targeting Notch signaling is noted.

Conclusions:

  • Targeted therapies for ALGS are crucial for addressing the disorder's underlying causes.
  • Emerging technologies offer potential for significant advancements in ALGS treatment.
  • Further research into novel therapeutic strategies is warranted for ALGS patients.
Keywords:
JAG1alagille syndromebile ductdrug developmentlivernotch signaling pathway

More Related Videos

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies15:48

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies

Published on: July 29, 2007

9.8K
Determining Bile Duct Density in the Mouse Liver07:35

Determining Bile Duct Density in the Mouse Liver

Published on: April 30, 2019

7.1K

Related Concept Videos

Gene Therapy00:59

Gene Therapy

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...
26.2K
Alzheimer's Disease: Treatment01:22

Alzheimer's Disease: Treatment

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...
305
Targeted Cancer Therapies02:57

Targeted Cancer Therapies

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...
8.0K
iPS Cell Differentiation01:22

iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
2.9K
Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

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...
5.3K