Below is a write up from my sister in law from our our board meeting last weekend from what we found out from Dr. Coopers research. Last weekend the Jack’s Army board heard some good news. In a marathon video conference call with Dr. Ed Cooper at Baylor University Medical Center in Houston and Jack’s own neurologist at Lurie Children’s Hospital in Chicago, we learned that Dr. Cooper’s team has made substantial strides in the laboratory toward understanding the mechanisms of KCNQ2. In addition, their colleagues in Germany have come to many of the same conclusions via a totally independent experimental pathway. Their evidence corroborates each other’s work. New papers are due to be published by both groups very soon, adding novel and crucial knowledge to the medical literature. The scientists who have devoted themselves to the KCNQ2 mystery now think they know what is going wrong in patients like Jack whose KCNQ2 gene is mutated. Understanding the mechanisms that control the function of the potassium channels affected by mutations in the KCNQ2 gene is key to targeting therapies to treat the disorder. Although we were cautioned to remember that the research is in early stages, Dr. Cooper reported promising data from experiments combining low doses of ezogabine (Potiga) with a new drug in development. In the lab, the combination is proving to be synergistic, giving more promising results than with Potiga alone (which in the lab is showing less promise for treating Jack’s particular mutation). This is excellent news, especially since there is some new evidence that Potiga may have side effects, such as urinary retention and skin discoloration. Cellular experimentation is due to start with a few months. A new grant from the CURE organization (cureepilepsy.org/research/2013grantees.asp; scroll down to find Dr. Cooper’s award) makes up for the across-the-board reduction in research funding for the $2M NIH grant Dr. Cooper was awarded last year. With these funds he is building three lines of transgenic mice and hopes to have them ready in one to two months. They will be necessary partners in the next step of experimentation.
Posted on: Fri, 01 Nov 2013 21:23:23 +0000
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