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 trained in child neurology at Washington University in St. Louis. I see patients at the University of Rochester as part of the Neurogenetics Consultation Service, the Hereditary Ataxia Program, and the Neurofibromatosis Program.

I am interested in improving access to child neurology care in settings with limited resources, and have participated in clinical and educational projects in Latin America and sub-Saharan Africa.

Research

Our collaborative research work studies developmental disorders where autistic features, intellectual disability, epilepsy, and movement disorders overlap. We also create new bioinformatics tools to analyze and integrate massively parallel sequencing and clinical data.

Credentials

Specialties

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

Education

1993
BA | New York University
Latin American Studies

2000
MD | University of Connecticut School of Medicine
Medicine

Post-doctoral Training & Residency

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

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

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

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

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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

7/2019
"Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)." Molecular genetics & genomic medicine.. 2019 Jul 0; 7(7):e00736. Epub 2019 May 13.

5/2/2019
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, , , , Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. "Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia." American journal of human genetics.. 2019 May 2; 104(5):948-956. Epub 2019 Apr 11.

2/15/2019
Zhang JF, Paciorkowski AR, Craig PA, Cui F. "BioVR: a platform for virtual reality assisted biological data integration and visualization." BMC bioinformatics.. 2019 Feb 15; 20(1):78. Epub 2019 Feb 15.

Books & Chapters

2017
Chapter Title: Developmental Encephalopathies.
Book Title: Swaiman's Pediatric Neurology, Principles and Practice. 6th Edition.
Author List: AR Paciorkowski, LE Seltzer, JL Neul.
Published By: Elsevier 2017

2017
Chapter Title: Neurogenetics in the Genome Era.
Book Title: Swaiman's Pediatric Neurology, Principles and Practice. 6th Edition.
Author List: K McMahon, AR Paciorkowski, LC Walters-Sen, JM Milunsky, A Bassuk, B Darbro, J Diaz, WB Dobyns, A Gropman.
Published By: Elsevier 2017

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