Gene Therapy, Genome Editing, and Stem Cell Therapies for Rare Genetic Disorders
This community develops clinical interventions for rare genetic diseases by correcting faulty genes, replacing missing proteins, or transplanting engineered cells.
The work centers on adeno-associated virus (AAV) vectors for in vivo gene delivery and CRISPR-Cas9 systems for precise genome editing. Specific applications include enzyme replacement therapy for Pompe disease, alpha-1 antitrypsin deficiency treatments, and genetic strategies for Duchenne muscular dystrophy. Researchers also utilize induced pluripotent stem cells and hematopoietic stem cells to create cell-based therapies, often validated in mouse models and patient-derived cell lines. The literature frequently addresses the safety and immunogenicity of these vectors, as well as the development of new base editors and prime editors to improve precision and reduce off-target effects.
The community is most prominent in research tracked for sodium, where it represents 1.1% of all sodium-related papers, and bromine, where it accounts for 1.6% of that element’s research. It also holds a 0.9% share of sulfur research.
The community comprises 46,501 papers, with the Journal of Biological Chemistry, Biochemistry, and Biochemical Journal being the most frequent publication venues.
Recent work focuses on enhancing the efficiency of large genomic insertions using prime assembly, developing potent CAR T cells from hematopoietic stem cells, and exploring non-mammalian AAV vectors to enable gene therapy redosing in patients with pre-existing immunity.