Alex R. Paciorkowski

University of Rochester Medical
Center, Rochester, New York, USA

Dr. Alex Paciorkowski is Senior Instructor of Neurology, Pediatrics, and Biomedical Genetics at the University of Rochester Medical Center. Doctor Paciorkowski received his M.D. in pediatrics and genetics at the University of Connecticut, and completed his Fellowship at University of Connecticut Health Center. He then went on to receive more training in child neurology at Washington University in St. Louis, joining URMC in 2012 to see patients as part of the Neurogenetics Consultation Service, which aims to be a growing collaborative effort between child neurology, medical genetics, developmental pediatrics, and includes genetic counseling services. The Paciorkowski Lab research program is focused on the discovery of genes involved in childhood neurodevelopmental disorders, and understanding how those genes affect brain development. This program includes creation of new bioinformatics tools to analyze data. Currently, the lab is focusing on next-generation sequencing approaches to gene discovery in severe pediatric epilepsies such as infantile spasms, and this research program received the Logan Infantile Spasms Award in 2012 from the Child Neurology Foundation. Other projects include understanding the consequences of abnormalities in important brain development genes such as FOXG1 and MEF2C. Dr. Paciorkowski initiated, in conjunction with IFF, a study that determined FOXG1 is not under the Rett umbrella, but rather a sister syndrome.

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