Gene Targeted Therapies are a Rapidly Emerging Field of Medicine

Cade Morris^*
*Correspondence: Cade Morris, Department of Orthopaedics and Rehabilitation, Vanderbilt University Medical Center, Nashville, USA, Email:

Introduction

Gene-targeted therapies are a rapidly emerging field of medicine that offers a promising approach for treating a range of genetic disorders, including those affecting pediatric neurology. With advances in genetic research, it is now possible to identify the genetic mutations underlying many neurological disorders, which has led to the development of new therapies that target these specific mutations. This essay will explore the emerging field of gene-targeted therapies in pediatric neurology, including the current state of research, potential benefits, and challenges to implementation. Pediatric neurology encompasses a broad range of neurological disorders that affect children and adolescents, including genetic disorders like Rett syndrome, Angelman syndrome, and Dravet syndrome. These disorders are caused by mutations in specific genes that affect brain development and function, resulting in a range of neurological symptoms such as seizures, developmental delays, and cognitive impairment. Traditional treatment options for these disorders are often limited to managing symptoms through medication, therapy, and supportive care. However, gene-targeted therapies offer a more direct approach to treating the underlying cause of the disorder, potentially leading to better outcomes and improved quality of life for affected individuals [1].

Description

The most common approach to gene-targeted therapy in pediatric neurology is gene replacement therapy, which involves replacing a mutated or missing gene with a functional copy. This is typically achieved using viral vectors to deliver the replacement gene to the affected cells. While this approach has shown promise in preclinical studies, there are still many challenges to overcome, such as ensuring that the replacement gene is delivered to the correct cells and that the immune system does not mount a response against the viral vector. Another promising approach to gene-targeted therapy is gene editing, which involves directly modifying the patient's DNA to correct or delete the mutation causing the disorder. This is typically achieved using a variety of gene editing tools, such as CRISPR/Cas9, that can precisely target and modify specific regions of the genome. While this approach is still in the early stages of development, it offers the potential for a more permanent and precise correction of the underlying genetic defect. Gene replacement therapy has been approved for the treatment of SMA, specifically targeting the survival motor neuron 1 gene, which is mutated in patients with SMA. The therapy involves delivering a functional copy of the SMN1 gene to the patient's cells using a viral vector. This treatment has shown promising results in clinical trials, with many patients experiencing significant improvement in motor function [2].

One of the most well-known examples of gene-targeted therapy in pediatric neurology is the use of Spinraza for the treatment of spinal muscular atrophy. SMA is a genetic disorder that affects the motor neurons responsible for controlling muscle movement, leading to progressive muscle weakness and atrophy. Spinraza works by increasing the production of a protein called survival motor neuron, which is deficient in patients with SMA due to mutations in the SMN1 gene. By increasing SMN production, Spinraza can improve motor function and prolong survival in patients with SMA. The approval of Spinraza in 2016 was a major milestone in the development of gene-targeted therapies and has paved the way for future treatments for other genetic disorders. Another example of gene-targeted therapy in pediatric neurology is the use of gene therapy for Rett syndrome, a rare genetic disorder that primarily affects girls and is characterized by developmental regression, seizures, and cognitive impairment. Rett syndrome is caused by mutations in the MECP2 gene, which plays a critical role in regulating gene expression in the brain. In preclinical studies, gene therapy has shown promise in correcting the underlying genetic defect and improving symptoms in animal models [3].

However, there are still many challenges to overcome before this therapy can be translated into a safe and effective treatment for human patients. Genetargeted therapies offer many potential benefits over traditional treatments for pediatric neurology, including the ability to target the underlying cause of the disorder and potentially provide a more permanent correction of the genetic defect. This could lead to improved outcomes, reduced symptom burden, and improved quality of life for affected individuals. Gene-targeted therapies are a promising new approach to treating a wide range of diseases, including those affecting the nervous system. In pediatric neurology, gene-targeted therapies have shown great potential for treating a variety of disorders, from genetic disorders like spinal muscular atrophy to acquired conditions like epilepsy. This article will provide an overview of gene-targeted therapies in pediatric neurology, including the different types of therapies and their potential applications. Genetargeted therapies are a type of treatment that aims to correct or modify genetic defects that cause disease. These therapies work by targeting specific genes or gene products that are involved in disease processes. There are several different types of gene-targeted therapies [4].

In this type of therapy, a functional copy of the defective gene is introduced into the patient's cells to replace the defective one. Gene editing involves directly modifying the patient's DNA to correct the genetic defect. Techniques like CRISPR/ Cas9 have made gene editing much more precise and efficient in recent years. Antisense therapy: Antisense therapy uses short nucleic acid sequences to bind to and block the expression of specific genes or gene products. RNAi is a natural cellular process that can be harnessed to silence specific genes. Small RNA molecules are used to target and degrade messenger RNA molecules, which carry the instructions for making proteins. Pharmacogenomics: Pharmacogenomics is the study of how a person's genetic makeup affects their response to drugs. By analyzing a patient's genes, doctors can tailor their treatment to their individual needs. Gene-targeted therapies have shown great potential for treating a variety of neurological disorders in children. Here are some examples of the different types of gene-targeted therapies being developed for pediatric neurology. SMA is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and wasting. There are four types of SMA, with type 1 being the most severe [5].

Conclusion

DMD is a genetic disorder that causes progressive muscle weakness and wasting. It is caused by mutations in the dystrophin gene, which encodes a protein that is essential for muscle function. Gene editing and antisense therapy are both being investigated as potential treatments for DMD. Gene editing using CRISPR/Cas9 has shown promise in preclinical studies, with researchers successfully restoring dystrophin expression in mouse models of DMD. Antisense therapy is also being developed, with a drug called eteplirsen already approved for use in the United States. Eteplirsen works by inducing exon skipping, allowing the production of a shortened but functional version of the dystrophin protein. Epilepsy is a neurological disorder characterized by recurrent seizures. Many different genes have been implicated in the development of epilepsy, making it a prime target for gene-targeted therapies. Researchers have identified specific genes that play a role in epilepsy and developed RNAi molecules to silence them. By targeting these genes, it may be possible to prevent seizures in patients with epilepsy.

Acknowledgement

None.

Conflict of Interest

None.

References

1. Emmerich, F. G. and C. A. Luengo. "Young's modulus of heat-treated carbons: A theory for nongraphitizing carbons."Carbon31 (1993): 333-339.

Google Scholar, Crossref, Indexed at

2. Lam, Edmond and John HT Luong. "Carbon materials as catalyst supports and catalysts in the transformation of biomass to fuels and chemicals."ACS Catal 4 (2014): 3393-3410.

Google Scholar, Crossref, Indexed at

3. Ahmed, Muthanna J. "Preparation of activated carbons from date (P. dactylifera L.) palm stones and application for wastewater treatments."Process Saf Environ Prot102 (2016): 168-182.

Google Scholar, Crossref, Indexed at

4. Song, Xinyu, Xinlong Ma, Yun Li and Liang Ding, et al. "Tea waste derived microporous active carbon with enhanced double-layer supercapacitor behaviors."Appl Surf Sci 487 (2019): 189-197.

Google Scholar, Crossref, Indexed at

5. Farma, Rakhmawati, Syarifah Famela Maurani, Irma Apriyani and Ari Sulistyo Rini. "Fabrication of carbon electrodes from sago midrib biomass with chemical variation for supercapacitor cell application." J Phys Conf Ser 2049 (2021): 012054.

Google Scholar, Crossref, Indexed at