Alexander R. Paciorkowski, M.D.

Alexander 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)

Derek Denny-Brown Young Neurological Scholar Award | American Neurological Association 2016
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. 48 available »

2016 Nov
Ma M, Adams HR, Seltzer LE, Dobyns WB, Paciorkowski AR. "Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies." The Journal of pediatrics. 2016 Nov; 178:233-240.e10. Epub 2016 Sep 15.
2016 May 10
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA. "Delineation of the movement disorders associated with FOXG1 mutations." Neurology. 2016 May 10; 86(19):1794-800. Epub 2016 Mar 30.
2016 Feb 18
Lugar HM, Koller JM, Rutlin J, Marshall BA, Kanekura K, Urano F, Bischoff AN, Shimony JS, Hershey T, . "Neuroimaging evidence of deficient axon myelination in Wolfram syndrome." Scientific reports. 2016 Feb 18; 6:21167. Epub 2016 Feb 18.
2015 Dec
Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF, Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR. "7q11.23 Duplication syndrome: Physical characteristics and natural history." American journal of medical genetics. Part A. 2015 Dec; 167A(12):2916-35. Epub 2015 Sep 03.
2015 Dec
McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR. "Familial recurrences of FOXG1-related disorder: Evidence for mosaicism." American journal of medical genetics. Part A. 2015 Dec; 167A(12):3096-102. Epub 2015 Sep 14.

Current Appointments

Assistant Professor - Department of Neurology, Child Neurology (SMD) - Primary
Assistant Professor - Department of Biomedical Genetics (SMD)
Assistant Professor - Department of Neuroscience (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