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

Lab Information

Visit Lab Website »


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)

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. 28 available »

2014 Apr 3
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 Apr 3; Epub 2014 Apr 03.
2014 Apr 3
Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB. "De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy." American journal of human genetics.. 2014 Apr 3; 94(4):634-41.
2013 Sep 18
Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM. "Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation." European journal of human genetics : EJHG. 2013 Sep 18; Epub 2013 Sep 18.
2013 Jul
Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. "Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption." American journal of medical genetics. Part A.. 2013 Jul; 161A(7):1523-30. Epub 2013 May 23.
2013 May
Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED. "MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways." Neurogenetics.. 2013 May; 14(2):99-111. Epub 2013 Feb 07.

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

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

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