{"id":"f8933993-0f4e-4b48-b01b-ec77d5e4c4bc","slug":"from-the-bench-to-the-bedside-genetics-of-intellectual-disability-gustatopic-mapping-molecular-origins-of-oligodendrogliomas-back-pain-and-the-brain-and-more","title":"From the bench to the bedside: Genetics of intellectual disability, Gustatopic mapping, Molecular origins of oligodendrogliomas, Back pain and the brain, and more…","authors":["Jason S. Hauptman"],"abstract":"Background: Intellectual disability has a significant socioeconomic and health care impact, yet its heritable nature is poorly understood. This study aims to identify new genetic etiologies for autosomal recessive intellectual disability (ARID) using families from Middle Eastern countries with high consanguinity rates. Methods: The authors employed a combination of standard and next-generation linkage analysis strategies to map genes associated with ARID. Families with members exhibiting moderate to severe cognitive impairment were examined to identify causal genetic abnormalities. Results: Causal genetic abnormalities were identified in approximately 85% of the families studied, with about 68% localized to a single mutation. In total, around 50 new genes implicated in ARID were discovered, affecting various cellular functions including transcription, translation, and metabolic processes. Conclusion: The findings highlight the potential for advancing our understanding of neuropsychiatric disorders through genetic research, suggesting future interventions may include targeted therapies for neurodevelopmental genes. Keywords: intellectual disability, genetics, autosomal recessive, linkage analysis, neuropsychiatric disorders, gene mapping","thumbnailUrl":null,"publishDate":"2011-11-30T00:00:00.000Z","doi":"10.4103/2152-7806.90439","categories":["Original Article"],"fullTextUrl":"https://surgicalneurologyint.com/wp-content/uploads/2015/05/3679/SNI-2-172.pdf"}