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Wednesday, September 11, 2013

NIH-Funded Study Discovers New Genes for Childhood Epilepsies

When I saw this article today, I was reminded that I'd forgotten to mention something in that last post. 

Earlier in the summer, Otis was enrolled in a genome study through Children's Mercy. It's a study of 25 kids with different diseases, the common thread being that the causes for the diseases are still unknown. 

We learned in Cleveland last fall that Otis has bihemispheric cortical dysplasia--which is basically due to abnormal brain cell development in utero. While of course alarming, this news also eased growing worries that we had had that his condition was maybe somehow due to a birth injury or lack of oxygen at birth. The discovery of the cortical dysplasia means that the condition must be genetic in cause, although all of the genetic testing Otis has undergone so far has come back completely normal. 

As part of this particular ongoing study, Ryan and I were able to submit our own DNA as well. And, bonus, none of the genetic testing will be of any cost to us. Our hope is that if evidence of a genetic mutation shows up at some point during this study--which could be a very very very long time from now, as they will continue to submit all of our DNA for testing as testing for particular gene sequences becomes available--we will know whether or not the troublesome gene was passed through either of our individual DNA, a combination of both of our DNA, or if it was just some freak thing that happened to Otis during cell division in utero.



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