This announcement just came out:
One of the distinguished speakers at DSD4 is Jing-Qyong Kang, MD, PhD, of the Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, Tennessee. Dr. Kang was awarded the 2010 Dravet Spectrum Disorders Research Award. Dr, Kang's main research goal is to try to understand the molecular basis of Dravet Spectrum Disorders that are associated with GABAA receptor gene mutations, in order to identify possible therapeutic targets.
Dr. Kang explains her pioneering research:
"As we know, mutations in GABAA receptor and SCN1A genes are frequently associated with epilepsy ranging from simple febrile seizures which remit as patients age to severe epilepsy with mental compromise like Dravet syndrome. In general, most Dravet syndrome patients are associated with mutations in SCN1A. There are a few pedigrees of Dravet syndrome are associated with mutation in GABRG2. Animal models have demonstrated that SCN1A mutations impair GABAergic interneuron activity. Thus understanding GABR mutations may shed light on understanding the underpinning mechanisms of both groups of genes.
"In the last two years, with the help of the funding support from Dravet organizations, we have characterized a number of GABRG2 truncation mutations associated with epilepsy/Dravet syndrome. We have demonstrated that all these truncation mutations resulted in the loss of function of the mutant alleles. These mutant GABRG2 subunits may have different protein stability and are degraded inside cells at different rates. Consequently, the different GABRG2 truncation mutant subunits had different dominant negative suppression on the biogenesis and trafficking of the wild type partnering GABAA receptor subunits.
The different truncated mutant GABRG2 subunits have disturbed the cellular homeostasis which may lead to neuronal dysfunction at different levels.
"We hope our work could help pave the way for identifying a novel therapeutic target other than the conventional anti-epileptic drugs which may eventually lead to a cure for at least a subgroup of epilepsy/Dravet syndrome patients. I am extremely grateful to Dravet organization for supporting my research."
Meet Dr. Kang and other Dravet experts at DSD4.
Requests for small group patient/family consultations with faculty physicians are available on a first-come, first-served basis.
Space is limited, so register today for:
The 4th Biennial Professional and Family Conference for
Dravet Spectrum Disorders
August 16-19, 2012
Also, this article gets me excited and features our own beloved Dr Miller