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 arrived at the University of Rochester in August of 2012, and see patients as part of the Neurogenetics Consultation Service. This is a service with genetic counseling support that draws on the expertise of several disciplines at URMC, including child neurology, medical genetics, and developmental pediatrics.

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. 32 available »

2014 Aug
Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. "Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism." Human genetics.. 2014 Aug; 133(8):1023-39. Epub 2014 Apr 20.
2014 Aug
Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR. "Epilepsy and outcome in FOXG1-related disorders." Epilepsia.. 2014 Aug; 55(8):1292-300. Epub 2014 May 16.
2014 Jun
Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. "The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications." American journal of medical genetics. Part A.. 2014 Jun; 164A(6):1503-11. Epub 2014 Apr 03.
2014 Jun
Seltzer LE, Paciorkowski AR. "Genetic disorders associated with postnatal microcephaly." American journal of medical genetics. Part C, Seminars in medical genetics.. 2014 Jun; 166C(2):140-55. Epub 2014 May 16.
2014 Jun
Mirzaa GM, Paciorkowski AR. "Introduction: Brain malformations." American journal of medical genetics. Part C, Seminars in medical genetics.. 2014 Jun; 166C(2):117-23. Epub 2014 May 22.

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