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Gene Therapy

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 inserted. The...

Gene Therapy

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 inserted. The...

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Related Experiment Video

Updated: Jul 11, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

The cranial base in craniofacial development: a gene therapy study.

S Kyrkanides¹, P Kambylafkas, J H Miller

¹Departments of Dentistry, School of Medicine and Dentistry, University of Rochester Medical Center, 625 Elmwood Ave., Rochester NY 14620, USA. stephanos_kyrkanides@urmc.rochester.edu

Journal of Dental Research

|September 25, 2007

Summary

This summary is machine-generated.

Midface retrusion is linked to cranial base synchondroses abnormalities in Sandhoff mice. Gene therapy restoring beta-hexosaminidase ameliorated defects, highlighting a critical developmental window.

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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography

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Published on: January 17, 2025

Area of Science:

Developmental biology
Genetics
Craniofacial biology

Background:

The causes of midface retrusion are not well understood.
Cranial base synchondroses are crucial for craniofacial development.

Purpose of the Study:

To investigate the role of cranial base synchondroses in midface retrusion using the Sandhoff mouse model.
To explore the potential of gene therapy for craniofacial defects.

Main Methods:

Utilized the Sandhoff mouse model to study craniofacial development.
Administered neonatal gene therapy to restore beta-hexosaminidase.
Analyzed skeletal defects and craniofacial morphology.

Main Results:

Developmental abnormalities in cranial base synchondroses were observed in mutant mice.
Gene therapy successfully corrected skeletal defects and restored craniofacial morphology.
Identified parathyroid-related peptide (PTHrP) and cyclo-oxygenase-2 (COX-2) as potential factors.

Conclusions:

Cranial base synchondroses abnormalities are implicated in midface retrusion.
Neonatal gene therapy is effective in ameliorating craniofacial defects.
Targeting PTHrP or COX-2 pathways may offer therapeutic benefits for midface retrusion.