Gene Therapy and Genome Editing for Genetic Diseases
This community develops methods to correct genetic defects in human cells, using viral vectors and gene-editing tools to treat inherited conditions such as Pompe disease, alpha-1 antitrypsin deficiency, and muscular dystrophy.
The work centers on the delivery of therapeutic genes via adeno-associated virus (AAV) vectors and the precise modification of the genome using CRISPR-Cas9 and prime editing. A significant portion of the research focuses on specific monogenic disorders, including late-onset Pompe disease, alpha-1 antitrypsin deficiency, and Duchenne muscular dystrophy. The community also investigates the use of hematopoietic stem cells and induced pluripotent stem cells as platforms for ex vivo gene correction. Recurring themes include the optimization of viral vector safety, the development of non-viral delivery systems, and the application of these technologies in clinical settings to restore function in affected tissues.
The community’s output is distributed across a wide range of elements, with the highest paper counts found in zinc, phosphorus, and sodium research. However, these elements represent a very small fraction of their respective total research portfolios, indicating that this community is a specialized niche within broader biological and chemical disciplines.
The community comprises 7,802 papers, published primarily in Molecular Therapy, Human Gene Therapy, and Genetics. Recent work continues to focus on advancing prime editing techniques for large genomic insertions, optimizing the production of therapeutic proteins in engineered cells, and developing non-viral delivery methods for in vivo gene correction in the lung.