|IS Research Award|
Dr. Alex R. Paciorkowski, M.D., FACMG, FAAP University of Rochester Medical Center was selected by CNF as the recipient of the Infantile Spasms Research Grant.
With this grant, Dr. Paciorkowski, whose application was reviewed by 10 of the nation's top child neurologists and then selected by the CNF Board of Directors, will be able to establish research on "early-stage investigators " in infantile spasms.
"From the first English description by Dr. William James West in 1841, infantile spasms have posed a series of challenges for medical science. We are still far from understanding the causes and optimal treatment of infantile spasms in many children," said Dr. Paciorkowski. "The Infantile Spasms Registry & Genetic Studies starts with the hypothesis that clearer understanding of the causes of infantile spasms should one day lead to the development of more effective therapies. In many patients infantile spasms are due to mutations in genes that are important for patterning of the developing brain. From this observation, other genes that also cause infantile spasms may be 'neighbors' in the genetic blueprints that direct development of the brain. Finding these genes may lead to discovery of genetic pathways that in the future may be treatable with medicines – and help stop seizures sooner and with fewer side-effects. Using bioinformatics combined with next-generation sequencing, this work proposes to identify new genes and new pathways involved in infantile spasms. We have put together a highly collaborative international team of child neurologists, geneticists, and epilepsy experts. Our goal is to improve the care of children with infantile spasms by increasing the knowledge of the biology underlying this serious form of epilepsy."
Dr. Paciorkowski will be honored and presented with the award at a special luncheon at the CNS Annual Meeting in San Diego.