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From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics
Annual Review of Genomics and Human Genetics ( IF 7.7 ) Pub Date : 2018-08-31 00:00:00 , DOI: 10.1146/annurev-genom-083117-021611
R. Rodney Howell 1
Affiliation  

Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on inborn errors of metabolism, including the glycogen storage diseases. My effort to organize newborn screening through the recommended uniform screening panel shaped and standardized newborn screening nationwide. Looking ahead, the expansion of whole-genome and whole-exome sequencing into newborn screening raises ethical and policy issues regarding informed consent procedures and the storage and use of residual blood spots.

中文翻译:


从一个孩子到统一的新生儿筛查:我在儿科医学遗传学中的幸运生活

迈克(Mike)是一位值得纪念的年轻患者,患有未经治疗的苯丙酮酸尿症以及其他受遗传疾病影响的患者,如果在婴儿期被诊断出可以治疗的话,他开始了我的十年职业生涯。这篇自传性文章反映了我的童年,早期研究以及儿科遗传学的专业经验。我的实验室研究集中于先天性代谢错误,包括糖原贮积病。我努力通过全国推荐的统一形状和标准化的新生儿筛查小组来组织新生儿筛查。展望未来,将全基因组测序和全外显子测序扩展到新生儿筛查中会引发有关知情同意程序以及残留血斑的存储和使用的伦理和政策问题。

更新日期:2018-08-31
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