At Sidra Medicine, we are harnessing cutting-edge genomic technologies—including long-read sequencing and integrative multi-omics—to investigate the genetic and epigenetic underpinnings of rare diseases. Our primary focus is on neurological, developmental, and neuropsychiatric conditions within diverse patient cohorts from the Middle Eastern population. We employ long-read genome, transcriptome, and methylation sequencing in family trios to identify rare disease-associated variants and understand their molecular mechanisms. Through outlier-based analyses, we detect methylation anomalies that may signal epigenetically driven mechanisms of pathogenicity. In parallel, full-length transcriptomics enables us to explore regulatory effects and uncover gene expression disruptions relevant to disease pathways. Our overarching goal is to enhance the diagnostic yield for neurodevelopmental disorders by integrating genomic, clinical, and imaging data into a unified analytical framework. Through this comprehensive approach, we aim to improve the rate of genetic diagnoses and deliver clinically actionable insights that support targeted therapeutic development and individualized patient care....
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sidra-medicine-ndd-cohort is published on HiFi Solves.