مقالات پذیرفته شده در نهمین کنگره بین المللی زیست پزشکی
CRISPR in Medical Genetics: Clinical Applications and Challenges
CRISPR in Medical Genetics: Clinical Applications and Challenges
Hanieh Salehzadeh,1,*
1. Department of Biology, Faculty of Science, University of Farhangian, Tehran, Iran
Introduction: CRISPR technologies have reshaped medical genetics by enabling precise correction of pathogenic variants and functional modification of patient-derived cells. Their clinical relevance is highest for monogenic diseases and hematologic disorders, where gene correction can produce durable therapeutic benefit.
Methods: We conducted a targeted review of translational and clinical studies (last five years) focusing on CRISPR interventions in medical genetics. Included reports described ex vivo editing of hematopoietic stem cells (HSCs), in vivo organ-targeted editing (liver, eye), clinical endpoints, delivery modalities (viral vectors, lipid nanoparticles, ribonucleoprotein complexes), and reported safety outcomes.
Results: Ex vivo HSC editing: Multiple early-phase trials report sustained engraftment and phenotype improvement in hemoglobinopathies following CRISPR-mediated disruption or correction.
In vivo organ-directed editing: Proof-of-concept studies show allele modification with biomarker changes in liver- and eye-targeted approaches, though efficacy varies with delivery efficiency
Risk mitigation via editor design: Base and prime editors reduce reliance on double-strand breaks, lowering some genotoxic risks; however, off-target activity and immune responses remain concerns.
Implementation gaps: Standardized off-target assays, consensus on long-term follow-up, and scalable, equitable access to genomic therapies are incompletely addressed.
Conclusion: CRISPR-based interventions are transitioning from bench to bedside within medical genetics, particularly for monogenic and hematologic conditions. Realizing clinical promise requires optimized tissue-specific delivery, robust safety monitoring, standardized regulatory pathways, and strategies to ensure broad patient access.