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Infant Gene Mapping: Faster Diagnoses, Better Treatments

27 JAN 2014

A recent Academy of Applied Pharmaceutical Sciences blog post reveals that DNA sequencing is becoming increasingly valuable as a treatment tool for sick infants. Kansas city-based geneticist, Stephen Kingsmore is making headlines with his use of gene-mapping in determining the key mutations that cause diseases in babies. Ten years ago, genome mapping cost billions of dollars and took years of effort to complete; however, advances in technology are making sequencing equipment more affordable and much more efficient. It only takes Kingsmore 24 hours to identify and analyze a patient’s genome, and isolate the key mutation responsible for the illness.  The post, Infant Gene Mapping: Faster Diagnoses, Better Treatments, discusses how the process helps save children’s lives, explaining that

Although pharma companies invest heavily in research and testing to ensure new drugs meet acceptable standards of pharmaceutical quality control, patients often suffer adverse reactions from new therapies, and many drugs are simply inappropriate for infants. With the help of a sophisticated DNA sequencer, Kingsmore can determine precisely where the problematic mutation lies and develop a highly targeted intervention. The technology helped save the life of baby, Kira Walker who suffered from an over-production of insulin. When traditional drugs proved useless, genome mapping held the key to identify which part of her pancreas should be removed – an operation that saved her life and provided long term blood sugar stability.

Originally the 3 week old, Kira Walker was treated intravenously with glucose in order to stabilize her blood sugar levels. Her condition was unusual in very young children and if not treated successfully, could have resulted in brain damage. When the glucose drip proved ineffective, Kingsmore sequenced her genome and was able to determine precisely the course of action that would ultimately resolve the problem.