Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, atrophy, and respiratory failure due to selective degeneration of lower motor neurons arising from homozygous deletion of exon 7 (95%) or mutation in the SMN 1 gene (5%),with severity correlating with SMN2 copy number-from fatal Type1 to milder Type 4-affecting 1:6,000–10,000 births worldwide ( 25,000 cases/year) and burdening India with 1,500–2,000 annual cases amid diagnostic delays. Although the backup SMN2 gene compensates a bit for SMN deficiency, a critical C→T transition in exon 7 leads to exon skipping and production of a truncated, unstable and nonfunctional SMN protein. Recent advances in disease-modifying therapies-including antisense oligonucleotides, small-molecule splicing modifiers, and gene replacement-have significantly improved clinical outcomes; however, these disease-modifying therapies do not restore endogenous SMN expression in all tissues and often require repeated administration. Despite these medications like Spinraza injections, Zolgensma gene therapy, Evrysdi pills that increase SMN protein, the condition still has got significant morbidity: Type 1 babies frequently die before the age of two, 60–95% develop scoliosis, which makes spinal injections uncomfortable and dangerous, and lifetime expenses for each patient surpass $2 million. What if we could edit the nucleotide base of SMN2(T6C) using next generation ABE10 to make it emulate like SMN1 gene as one time genome editing technology to restore stable functional SMN protein that would be the permanent cure for SMA. This cutting edge molecular tool “AI-based Adenine Base Editors (ABE10)” would facilitate an endogenous regulation, laying the groundwork for precision medicine in rare disease management.

Sheena P. Kochumon is an accomplished paediatrician and clinical geneticist currently serving as Assistant Professor in the Department of Paediatrics at Amrita Institute of Medical Sciences and Research Centre, Kochi. She completed her MBBS from Government Medical College, Thrissur, followed by DCH and MD in Paediatrics from Government Medical College, Kozhikode, where she was awarded Best Outgoing MD Student in 2007.She is the advisory board member of Bharath Muscular Dystrophy Foundation.She is the past state secretary of Indian academy of Paediatrics, Genetics Chapter,Kerala,India.With a strong specialization in Paediatric and Clinical genetics, she pursued fellowship training at Amrita Institute of Medical Sciences and at Government Medical college ,Thiruvanathapuram respectively.She has further enhanced her expertise through advanced certifications, including HMX Pro Genetics programs from Harvard Medical School on Gene therapy and Cancer Genomics and Precision Oncology. She also completed observership training in cancer genetics and cytogenetics at Malabar Cancer Centre,Kerala,India

Her research portfolio includes publications in paediatric genetics, oncology, and public health, with contributions to journals and book chapters.She actively collaborates with multidisciplinary teams to tailor therapeutic interventions in Spinal Muscular Atrophy and also leveraging the latest therapy under preclinical trial- Adenine Base Editing –“The one and done Therapy for Spinal Muscular Atrophy”.