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Author

Mahmood Rasool

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Open access Jul 2026

Exome Sequencing uncovers Homozygous Stop-Gained variant in the SYNE1 Gene Leading to Spinocerebellar Ataxia

This finding may represent the first reported Saudi family with a SYNE1 mutation associated with Autosomal Recessive Spinocerebellar Ataxia type 8 and Autosomal Recessive Cerebellar Ataxia type 1 and highlights the utility of molecular diagnostics.

A. Haque, M. Z. Alam, F. Bibi et al. · 0 citations
#gene editing Review Aug 2026

Cell-specific epigenetic editing in cardiovascular disease: Mechanisms, therapeutic potential, and translational challenges.

Cell-specific epigenetic editing holds very high therapeutic value for atherosclerosis, cardiomyopathy, and fibrosis, provided that delivery, specificity, and safety challenges are also addressed.

Majed Alsulami, Mahmood Rasool, Ahmed Masoud et al. · 0 citations