From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics

Annual Review of Genomics and Human Genetics
R Rodney Howell

Abstract

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.

References

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May 24, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Bradford L TherrellR Rodney Howell

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Citations

Sep 15, 2019·Journal of the European Academy of Dermatology and Venereology : JEADV·B Polkowska-PruszyńskaD Krasowska

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Methods Mentioned

BETA
biopsies
dried
MDA

Software Mentioned

SIMD

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