首页> 美国卫生研究院文献>Schizophrenia Bulletin >F195. ENRICHMENT OF PATHOGENIC VARIANTS ASSOCIATED WITH TREATABLE GENETIC DISEASES IN LARGE SCHIZOPHRENIA BIPOLAR AND DEPRESSION COHORTS
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F195. ENRICHMENT OF PATHOGENIC VARIANTS ASSOCIATED WITH TREATABLE GENETIC DISEASES IN LARGE SCHIZOPHRENIA BIPOLAR AND DEPRESSION COHORTS

机译:F195。大的精神分裂症双侧和抑郁人群与可治疗的遗传性疾病相关的致病性变体的富集

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摘要

BackgroundGenetic diseases are individually rare but collectively common. Many genetic conditions can mimic mental health disorders, with psychiatric symptoms that are difficult to treat with regular medications. Treatment of the underlying genetic disease can cure the associated psychiatric symptoms or help regular medications work better. Discovery of rare genetic diseases in psychiatric patients would reveal specific treatment options, and give information about the chances of other family members being affected. In this study, we test the hypothesis that psychiatric populations are enriched for pathogenic variants associated with selected treatable inborn errors of metabolism (IEMs).
机译:背景技术遗传疾病个别罕见,但集体普遍。许多遗传条件可以模仿精神健康障碍,其精神症状难以用常规药物治疗。潜在遗传病的治疗可以治愈相关的精神症状或帮助常规药物更好地工作。在精神病患者中发现罕见的遗传疾病将揭示特定的治疗选择,并提供有关其他家庭成员受到感染的机会的信息。在这项研究中,我们测试了以下假设:精神病人群中与选择的可治疗的先天性新陈代谢错误(IEM)相关的致病变异丰富。

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