Alexander R. Paciorkowski, M.D.

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

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.

Credentials

Faculty Appointments

Assistant Professor - Department of Biomedical Genetics (SMD)
Assistant Professor- Center for Neurotherapeutics Discovery
Assistant Professor - Department of Neurology, Child Neurology (SMD) - Primary
Assistant Professor - Department of Neuroscience (SMD)
Assistant Professor - Department of Pediatrics (SMD)

Specialties

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

Post-doctoral Training & Residency

07/01/2000 - 06/30/2001
Internship in at University of Connecticut

07/01/2001 - 06/30/2003
Residency in Pediatrics at University of Connecticut

07/01/2005 - 06/30/2007
Residency in Medical Genetics at University of Connecticut

07/01/2007 - 06/30/2010
Fellowship in Neurology: Child Neurology at Washington University School of Medicine

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Awards

2016
Derek Denny-Brown Young Neurological Scholar Award
Sponsor: American Neurological Association

2014
Kayden R. Vinson Distinguished Scholar Award
Sponsor: Le Bonheur Children's Hospital Neuroscience Institute
Location: Memphis, TN

2013 - Present
K08 Award
Sponsor: NIH / NINDS

2012
Logan Infantile Spasms Award
Sponsor: Child Neurology Foundation

2010
Berg Research Prize in Neurology
Sponsor: Washington University School of Medicine
Location: St. Louis, MO

2009 - Present
Fellow, American College of Medical Genetics

2009
Resident of the Year Award for Teaching
Sponsor: Washington University School of Medicine
Location: St. Louis, MO

2008
Resident of the Year Award for Teaching
Sponsor: Washington University School of Medicine
Location: St. Louis, MO

2004 - Present
Fellow, American Academy of Pediatrics

2001
Outstanding Intern in Pediatrics
Sponsor: University of Connecticut School of Medicine
Location: Farmington, CT

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Publications

Journal Articles

6/27/2017
Zhang JF, James F, Shukla A, Girisha KM, Paciorkowski AR. "India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin." BMC research notes. 2017 Jun 27; 10(1):233. Epub 2017 Jun 27.

6/2017
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. "Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients." Genetics in medicine : official journal of the American College of Medical Genetics.. 2017 Jun 0; 19(6):691-700. Epub 2016 Nov 10.

5/2/2017
Park K, Seltzer LE, Tuttle E, Mirzaa GM, Paciorkowski AR. "PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature." American journal of medical genetics. Part A.. 2017 May 2; Epub 2017 May 02.

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