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Genomic Approaches to Surgical Diseases
21st Annual Samuel Jason Mixter Lecture
Patricia K. Donahoe, MD
Arch Surg. 2006;141:409-413.
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INTRODUCTION
In the new millennium, surgery is rapidly incorporating novel technological and conceptual paradigms, one of the most important of which is the evolving field of genetics and genomics. In the not-too-distant future, everyone may have a haplotype map, a record of all the single nucleotide polymorphisms (SNPs) spanning each individual's genome. The patterns of polymorphisms of all chromosomes then can be interrogated for associations with complex or monogenetic diseases, either enhancing or minimizing their severity. Pediatric surgeons became aware of the power of genetics during intense investigations of children with congenital anomalies and realized that with each condition there was a variation in the severity or phenotypic profile of the abnormality. This phenotypic variation also became apparent in transgenic animal models produced by homologous recombinations in which single genes were inactivated (knockouts) or overexpressed. Many of the phenotypes and the timing of their presentation varied with . . . [Full Text of this Article]
THE IMPORTANCE OF GENETICS AND GENOMICS
PEDIATRIC CONGENITAL ANOMALIES
CONGENITAL DIAPHRAGMATIC HERNIA
ASSUMPTIONS
ANIMAL MODELS
CANDIDATE GENES FROM ANIMAL STUDIES INSTRUCT HUMAN STUDIES
COMPARATIVE GENOMIC HYBRIDIZATION
GENOMEWIDE SNP ANALYSIS
SUMMARY
AUTHOR INFORMATION
Author Affiliation: Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston.
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