The essential goal of genetic discovery, analysis, and manipulation is clinical genetics: using our hard-won knowledge of genes and their impact on disease to improve diagnosis, enhance treatment, and, ultimately, cure disease.

Down syndrome has long been known to be caused by a chromosomal disorder, and the medical community has long been able to identify its occurrence in women in their second trimester of pregnancy.

New research led by Columbia physicians this year demonstrated successful – and more accurate – diagnosis earlier in a woman’s pregnancy.

It is an example of translational research that will change medical practice with profound results for patients.

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