Alex R. Paciorkowski, M.D.

Alex R. Paciorkowski, M.D.

Contact Information

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 631
Rochester, NY 14642

Professional Bio

My overall career goal is to help improve the care of children with neurologic disability. Early in my training I decided to focus on neurogenetics, as many causes of neurologic disorders in childhood have a genetic basis. After completion of my pediatrics and medical genetics training at the University of Connecticut, I then moved to St. Louis for child neurology training at Washington University. I see patients as part of the Neurogenetics Consultation Service and the Hereditary Ataxia Program.

Research Bio

The Paciorkowski Lab research program is focused on the discovery of genes involved in childhood neurologic disorders, and how those genes affect brain development. Currently, the lab is working on next-generation sequencing approaches to gene discovery in severe pediatric epilepsies such as infantile spasms. We are also studying complex developmental disorders where autistic features, intellectual disability, epilepsy, and movement disorders overlap. A key part of our research program is the creation of new bioinformatics tools to analyze and integrate data.

Awards & Honors (National)

K08 Award | NIH / NINDS 2013 - Present
Logan Infantile Spasms Award | Child Neurology Foundation 2012

Awards & Honors (Local)

Kayden R. Vinson Distinguished Scholar Award | Le Bonheur Children's Hospital Neuroscience Institute | Memphis, TN 2014
Berg Research Prize in Neurology | Washington University School of Medicine | St. Louis, MO 2010
Resident of the Year Award for Teaching | Washington University School of Medicine | St. Louis, MO 2009
Fellow, American College of Medical Genetics 2009 - Present
Resident of the Year Award for Teaching | Washington University School of Medicine | St. Louis, MO 2008
Fellow, American Academy of Pediatrics 2004 - Present
Outstanding Intern in Pediatrics | University of Connecticut School of Medicine | Farmington, CT 2001

Recent Journal Articles

Showing the 5 most recent journal articles. 39 available »

2015 Apr 18
Lee BH, Smith T, Paciorkowski AR. "Autism spectrum disorder and epilepsy: Disorders with a shared biology." Epilepsy & behavior : E&B. 2015 Apr 18; Epub 2015 Apr 18.
2015 Apr 2
Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. "De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies." American journal of human genetics. 2015 Apr 2; 96(4):682-90.
2015 Mar 31
Selioutski O, Seltzer LE, Burchfiel J, Paciorkowski AR, Erba G. "Characteristic features of the interictal EEG background in two patients with Malignant Migrating Partial Epilepsy in Infancy (MMPEI)." Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 2015 Mar 31; Epub 2015 Mar 31.
2015 Mar
Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. "Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly." Epilepsia. 2015 Mar; 56(3):422-30. Epub 2015 Feb 05.
2014 Oct
Hoekel J, Chisholm SA, Al-Lozi A, Hershey T, Tychsen L, . "Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome." Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2014 Oct; 18(5):461-465.e1. Epub 2014 Oct 21.

Current Appointments

Assistant Professor - Department of Neurology, Child Neurology (SMD) - Primary
Assistant Professor - Department of Biomedical Genetics (SMD)
Assistant Professor - Department of Pediatrics (SMD)
Assistant Professor - Center for Neural Development & Disease

Specialties

Pediatrics - American Board of Pediatrics
Clinical Genetics (M.D.) - American Board of Medical Genetics
Neurology with Special Qualifications in Child Neurology - American Board of Psychiatry and Neurology

Education

MD | University of Connecticut School of Medicine2000

Post-Doctoral Training & Residency

Fellowship in Pediatric Neurology at Washington University School of Medicine07/01/2007 - 06/30/2010
Residency in Genetics at University of Connecticut07/01/2005 - 06/30/2007
Residency in Pediatrics at University of Connecticut07/01/2001 - 06/30/2003
Internship at University of Connecticut07/01/2000 - 06/30/2001