Diagnosis of a genetic, incurable disease can be devastating for affected individuals and their families. In case of genetic prion disease, a rare disease of the CNS caused by mutations of the human prion protein gene, PRNP, mutation carriers usually do not exhibit symptoms until late adulthood. Genetic prion diseases comprise a relatively small fraction (10–15%) of all prion diseases, the most common being sporadic Creutzfeldt-Jakob disease. Since no therapy exists except palliation, individuals with family history of genetic prion disease face the dilemmatic decision of whether to undergo genetic testing.

中文翻译：

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基因genetic病毒疾病临床试验设计的新范式。

遗传性，不治之症的诊断可能对受影响的个人及其家人造成毁灭性的打击。在遗传genetic病毒疾病的情况下，由人类pr病毒蛋白基因PRNP突变引起的中枢神经系统罕见病，突变携带者通常要到成年后期才表现出症状。遗传性ion病毒疾病在所有病毒疾病中所占的比例相对较小（10％至15％），最常见的是偶发性Creutzfeldt-Jakob疾病。由于除姑息治疗外没有其他治疗方法，具有遗传性ion病毒病家族史的人面临着是否进行基因检测的难题。