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Gene Therapy for Paediatric Homozygous Familial Hypercholesterolaemia.

Author: AlexanderIan E, GravesLara E, HortonAri, SrinivasanShubha

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.

Overview

This review discusses the challenges of treating homozygous familial hypercholesterolaemia (HoFH) in children and adolescents, particularly those with a null variant. Gene therapy, specifically using a recombinant adeno-associated vector (rAAV) to deliver LDLR DNA, is a promising treatment option but faces challenges in the paediatric population. The review explores the potential of genomic editing technology like CRISPR/Cas9 to repair LDLR in the genome of hepatocytes, offering a more durable treatment for HoFH.
Paper Details　
Original Abstract of the Article :
The clinical outcome for children and adolescents with homozygous familial hypercholesterolaemia (HoFH) can be devastating, and treatment options are limited in the presence of a null variant. In HoFH, atherosclerotic risk accumulates from birth. Gene therapy is an appealing treatment option as rest...See full text at original site
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引用元：
https://doi.org/10.1016/j.hlc.2023.01.017

データ提供：米国国立医学図書館（NLM）

Gene Therapy: A New Frontier for Treating Familial Hypercholesterolaemia

The journey to overcome genetic diseases can be a long and arduous one, my friends. It's like a caravan traversing a vast desert, facing challenges and seeking solutions. This study explores the potential of gene therapy in treating homozygous familial hypercholesterolaemia (HoFH), a rare and severe genetic disorder characterized by extremely high cholesterol levels. The researchers delve into the challenges and opportunities of gene therapy for HoFH, particularly in the pediatric population. The study is like a caravan venturing into uncharted territory, seeking new and innovative approaches to combat this devastating disease.

Gene Therapy: A Powerful Tool for Genetic Repair

The researchers highlight the promise of gene therapy as a potential cure for HoFH. By delivering a functional copy of the low-density lipoprotein receptor (LDLR) gene, gene therapy could restore the body's ability to regulate cholesterol levels. This is a groundbreaking approach, offering a potential solution to a previously incurable condition. It's like finding a hidden oasis with a spring of genetic repair, offering a path to a healthier future for individuals with HoFH.

The Promise of a Cure

This study underscores the potential of gene therapy to transform the lives of individuals with HoFH. By addressing the underlying genetic defect, gene therapy could provide a long-lasting solution, eliminating the need for lifelong medications and potentially preventing the development of serious complications. It's like a desert bloom, signifying hope and the possibility of a brighter future.

Dr.Camel's Conclusion

This study offers a glimpse into the exciting potential of gene therapy in treating HoFH. As researchers continue to explore the vast desert of genetic diseases, we can anticipate further advancements in gene therapy, offering hope and potential cures for individuals facing the challenges of these complex conditions. It's a testament to the remarkable progress of science and its commitment to improving human health.

Date :
  1. Date Completed 2023-08-07
  2. Date Revised 2023-09-04
Further Info :

Pubmed ID

37012174

DOI: Digital Object Identifier

10.1016/j.hlc.2023.01.017

SNS
PICO Info
in preparation
Languages

English

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