ADVANCEMENT IN RARE GENETIC DISEASE TREATMENT: A COMPREHENSIVE REVIEW OF NOVEL THERAPIES

Himanshu Thakur*, Harshada Dhak, Mohit Patil, Rohit Patil, Dr. Sonali Uppalwar

Rare genetic disorders collectively affect a substantial segment of the global population. Clinicians may find it challenging to distinguish between clinically identical disorders due to the lack of information available for many diseases. This causes issues with patient care and genetic counseling. In recent years, we've seen some incredible strides in how we treat rare genetic diseases, thanks to breakthroughs in genetic therapies like gene editing, gene replacement, and RNA-based treatments. Technologies such as CRISPR-Cas9, adeno-associated virus (AAV) vectors and nanotechnology have led to the development of therapies for conditions that were once thought to be untreatable, including spinal muscular atrophy, sickle cell disease, and inherited retinal disorders. Innovative delivery systems both viral and non-viral have broadened the therapeutic options available and made it possible to achieve more accurate and lasting gene corrections. Despite the promise of gene therapy, there are still some tough challenges to overcome, like immune responses, ethical issues, and the high costs involved. On future prospect, we might see a trend where gene therapy is combined with other treatment methods, such as gene editing paired with stem cell therapy, which could lead to better outcomes for patients. This review aims to provide a comprehensive overview on novel gene therapy techniques which enhance the efficiency and specificity of target gene delivery.