This is the blog for GW students taking Human Evolutionary Genetics. This site is for posting interesting tidbits on: the patterns and processes of human genetic variation;human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.

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GWHEG figure

Friday, April 27, 2018

Journal update 3/3: DNA mass spectrometry to improve sensitivity of newborn screening for Fabry disease.


Fabry disease is likely to cause mortality in many female carriers. The aim of this study was to develop an improved cost-effective screening method that would be able to detect Fabry disease among female newborns. Their study found that the Agena iPLEX assay is powerful for detecting females with Fabry disease. With this study, they were able to detect many disease-onset adult family members who were originally undiagnosed for Fabry disease and the screening for this study helped them to receive treatment in time before severe and irreversible cardiac damage occurred.

Link: here

Joanne

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