• Peds/Neurology

• Pediatric Neurology

The research of InfoTyler M Pierson, MD, focuses on Pediatric Neurogenetic Disorders. Pediatric Neurogenetic Disorders' diagnosis, disease models and therapeutic interventions biomedical research often focuses on common disorders that affect a significant portion of the population (e.g., diabetes, cancer, heart disease). This approach prudently allocates limited research funds toward disorders that have the most widespread effect on collective medical needs. Unfortunately, this path often neglects rare disorders that affect only a handful of patients, the study of which can be very valuable in providing insight into cellular and molecular functions. Rare neurogenetic disorders are often caused by genetic mutations that alter function of important genes involved in the development or function of cells in the central or peripheral nervous systems. Because many of the genes involved in these neurodevelopmental disorders are crucial to neurological development and human behavior, the effects of these disorders can often be observed early in life. Alternatively, pediatric neurodegenerative disorders can occur after normal neurodevelopment, with subsequent loss of motor and cognitive abilities. Consequently, pediatric neurogenetic disorders are a major subset of rare disorders, and many are severely debilitating and/or life-threatening.The recent emergence of genomic methods such as high-density single nucleotide polymorphism arrays, exome sequencing and whole-genome sequencing has revolutionized the ability to make diagnoses of rare or new disorders. Further advances in biotechnology, such as induced pluripotent stem cells, enables researchers to model these disorders with patient-derived cells to confirm the genetic diagnosis and research the mechanisms of disease.

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• Other Degrees: Baylor College of Medicine, 1999
• Medical School: Baylor College of Medicine, 2001
• Residency: Texas Children's Hospital, 2002
• Residency: Hospital of the University of Pennsylvania, 2003
• Fellowship: The Children's Hospital of Philadelphia, 2007
• Fellowship: National Institutes of Health, 2012

View CV as a PDF

• Department of Neurology and Neurosurgery
• Department of Pediatrics
• Pediatric Neurosurgery Program
• Charcot-Tooth-Marie (CMT) Clinic
• Medicine
• Pediatrics
• Regenerative Medicine Institute (Board of Governors Regenerative Medicine Institute)
• Pediatric Neurogenetics

• Fashion Industries Guild Endowed Fellowship for the Pediatric Undiagnosed Diseases, 2017
• Fashion Industries Guild Endowed Fellowship in Pediatric Neuromuscular Diseases, 2012
• National Human Genome Research Institute Merit Award
• Member, Child Neurology Society
• Member, American Society of Gene and Cell Therapy

Click here for a list of peer-reviewed publications.

• C Sheih, N Jones, B Vanle, MG Au, A Huang, APG Silva, H Lee, E Douine, MG Otero, A Choi, K Grand, IP Taff, MR Delgado, MJ Hajianpour, A Seeley, L Rohena, H Vernon, KW Gripp, SA Vergano, S Mohida, S Naidu, AB Sousa, KE Wain, TD Challman, G Beek, D Basel, J Ranells, R Smith, R Yusapov, ML Freckman, L Ohden, L Davis-Keppen, D Chitayat, JJ Dowling, R Finkel, A Dauber, R Spillman, LDM Pena, The Undiagnosed Diseases Network, K Metcalfe, M Splitt, K Lachlan, SA McKee, J Hurst, DR Fitzpatrick, J Morton, H Cox, S Venkate-swaran, JI Young, ED Marsh, S Nelson, J Martinez, JM Graham Jr, U Kini, J Mackay, TM Pierson. GATAD2B-associated neurodevelopmental disorder (GAND): Genetic and clinical insights. Genetics in Medicine 22: 878-888. doi: 10.1038/s41436-019-0747-z.
• TM Pierson, MG Otero, K Grand, A Choi, J Mackay, JI Young, JM Graham Jr, J Mackay. The NuRD Complex and Macrocephaly-associated Neurodevelopmental Disorders. American Journal of Medical Genetics part C 2019 doi: 10.1002/ajmg.c.31752.
• B Johnson, R Kumar, S Oishi, S Alexander, M Sanchez Vega, A Ivancevic, L Pérez-Jurado, A Gardner, D Domingo, E Parnell, S Yoon, J Liebelt, M Lines, H Lefroy, U Kini, Deciphering Developmental Disorders Study, S Grønborg, S Mercier, S Küry, S Bézieau, L Pasquier, M Raynaud, A Afenjar, T Billette de Villemeur, B Keren, J Désir, L Van Maldergem, M Marangoni, N Dikow, M Reijnders, D Koolen, PM VanHasselt, M Weiss, P Zwijnenburg, J Sa, C Falcao Reis, C López-Otín, O Santiago-Fernández, A Fernández-Jaén, A Rauch, K Steindl, P Joset, A Goldstein, S Madan-Khetarpal, E Infante, E Zackai, C Mcdougall, V Narayanan, K Ramsey, S Mercimek-Andrews, L Pena, V Shashi, Undiagnosed Diseases Network, K Schoch, F Pinto e Vairo, PN Pichurin, SA Ewing, SS Barnett, EW Klee, MS Perry, MK Koenig, CE Keegan, JL Schuette, S Asher, Y Perilla-Young, JA Rosenfeld, E Bhoj, P Kaplan, D Li, R Oegema, E van Binsbergen, B van der Zwaag, M Falkenberg Smeland, VShashi, JA Sullivan, I Cutcutache, M Page, M Armstrong, AE Lin, N den Hollander, MJV Hoffer, T Kleefstra, P Penzes, S Wood, T Burne, TM Pierson, M Piper, J Gecz and L Jolly. (2019) Missense variants in USP9X lead to a distinct male neurodevelopmental disorder characterised by a loss of TGFβ signalling. Biological Psychiatry 2019 S0006-3223 (19) 31479-9 doi: 10.1016/j.biopsych.2019.05.028.