We finally heard back from a doctor about Evelyns rare gene mutation. He agrees with the other doctors that Evelyn is the first with this particular gene mutation. He also said proving that UBA5 mutations (including the two specific mutations found in Evelyn) cause a neurological disorder will most likely require that we model both these mutations in mice. This could take about a year to generate the mice. Looks like we have a long road ahead, but we will never give up. Hes researching more and were anxiously waiting for his reply!
Posted on: Wed, 12 Mar 2014 05:57:08 +0000
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