In today's episode, we dive into the base editing approaches in Spinal Muscular Atrophy (SMA), a degenerative motor neuron disease caused by the loss of motor neurons in the spinal cord.

Our guest is Dr. Mandana Arbab is the Lodish Family Assistant Professor of Neurology at Harvard Medical School and faculty member of the Rosamund Stone Zender Translational Neuroscience Center at Boston Children's Hospital. She received her Ph. D. in Regenerative Medicine at the Hubercht Institute in the Netherlands and completed her postdoctoral fellowship at the Broad Institute with Professor David Liu. 

Dr. Arbab sheds light on the genetics of SMA, emphasizing the critical role of SMN genes and the potential of base editing to bring about transformative treatments. SMA stands out as the most common genetic cause of infant death worldwide, affecting patients within the first few months of life. The podcast delves into the existing therapeutics for SMA, such as antisense oligonucleotides and AAV gene therapy, examining their limitations and the quest for more precise and long-term solutions. The concept of base editing takes center stage, offering a promising approach to correct the genetic mutations associated with SMA.

Join us as we discuss the challenges and opportunities of bringing base editing into clinical trials. Learn about the intricacies of delivery mechanisms, biodistribution, and the potential for combining base editing with existing therapies. The conversation extends to considerations for clinical trials, including addressing off-target effects and the complexities of patient eligibility.

The podcast concludes with a glimpse into the future of CRISPR genome editing, and the exciting potential for transformative treatments in the realm of rare diseases.

Tune in to “Gene Therapy Insights” and embark on a journey through the cutting-edge world of gene therapy, where science meets hope, and the future of medicine unfolds.