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.
| K08 Award | NIH / NINDS |
2013 - Present |
| Logan Infantile Spasms Award | Child Neurology Foundation |
2012 |
| 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 |
2013 May 23
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 May 23; 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 0; 14(2):99-111. Epub 2013 Feb 07. |
2013 May
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J, , Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. "Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome." Nature genetics. 2013 May 0; 45(5):556-62. Epub 2013 Mar 31. |
2013 May
Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S. "CDKL5 and ARX mutations in males with early-onset epilepsy." Pediatric neurology. 2013 May 0; 48(5):367-77. |
2013 Jan 29
Paciorkowski AR, Darras BT. "Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders." Neurology. 2013 Jan 29; 80(5):426-7. Epub 2013 Jan 02. |
