It was the first week of January, 2012. My nephew had received his KCNQ2 diagnosis in November, but so far we had found no particularly useful information, no foothold in the mountain we knew we would have to start climbing. All we had were 4 letters and a number.
Maybe it was pure New Year’s optimism that made me try Googling K-C-N-Q-2 all over again. It’s a time of year we believe more than ever in the power to make positive change. So it was in that spirit I found someone named Dr. Ed Cooper down in Texas. There was an email address. I sent it to my brother Mike and asked, “Why not give it a shot?”
Mike composed a note to Dr. Cooper, hit send, and prepared for a long wait for a response. But the reply came the very next day, and so began an amazing journey of collaboration, discovery, and connection. We are so grateful for Dr. Cooper and his tremendous support. And we encourage you to get to know him too! Register your child in his RIKEE project to help make positive change in the understanding of KCNQ2-realed epilepsy.
[dropcap]Q.[/dropcap]Can you briefly describe your background?
[dropcap]A.[/dropcap]I grew up in the northeastern US, attended Yale, studying history and pre-med, and worked as a lab tech at UC San Francisco for a couple years before returning to Yale as an MD PhD candidate. I returned to UCSF for my neurology residency training, and stayed on as a post-doc before establishing my own lab.
[dropcap]Q.[/dropcap]How did you first get interested in studying epilepsy and the KCNQ2 mutation?
[dropcap]A.[/dropcap]Before KCNQ2 was discovered, I had already worked on related voltage-gated channels for about 10 years during my PhD and post-doc. As a neurologist in training, I anticipated epilepsy would be related to channels more clearly than was then known—in fact, others had begun to uncover how mutations in channels could result in diseases, both in experimental animals and man. My mentors at UCSF, Lily and Yuh Nung Jan, had cloned the very first potassium channel gene, showing that its mutations caused attacks of uncontrollable shaking in a widely used genetic model. Lily was asked to peer review the first papers describing the link between KCNQ2 and KCNQ3 and human epilepsy in 1998. When the papers were accepted, Lily asked me, as the only neurologist in her research group, to help in preparation of an accompanying editorial. I was fascinated by the new work, switched my postdoctoral project to KCNQ channels, and published my first papers in collaboration with Lily in 1999-2001. That work allowed me to begin my independent lab.
[dropcap]Q(2).[/dropcap]What are the biggest challenges you face in your work? What inspires or drives you as a researcher of genetic epilepsies?
[dropcap]A.[/dropcap]Interestingly, I think of your two questions as inextricably linked—the challenges are inspiring. First, I am in this to help the patient–that’s the fundamental goal. Second, I am inspired by the beauty and surprises of the brain’s mechanisms, appreciation for that is something that deepens with training. Third, the collaborative team spirit in research, learning from great teachers and working with able students, makes it fun even when it is difficult—with KCNQ2 this has now been broadened to include the collaboration with parents and families that has become so important for our work.