Stephanie Bielas, Ph.D.

Michigan Neuroscience Institute Affiliate
Associate Professor of Human Genetics

Medical Science II
Room 3703 
Ann Arbor, MI 48109

734-647-8890

Areas of Interest

The Bielas lab focuses on understanding the epigenetic and molecular mechanisms of stem cell multipotency, self-renewal, and neurogenesis required to build a brain. We develop these projects from our human genetic studies to identify the genetic basis of neurodevelopmental disorders. A significant challenge to investigating cell and molecular mechanisms of neurodevelopmental disorders has been the lack of affected tissue. We use human brain organoid cultures differentiated from human pluripotent stem cells (hPSCs) and transgenic mice as model systems to address this problem. Our goal is to elucidate the pathology of clinically important neurological disorders and novel features of human brain development. 

Credentials

Published Articles or Reviews

  • KC R , Srivastava A, Wilkowski JM , Burke DT , Bielas SL. Detection of nucleotide-specific CRISPR/Cas9 modified alleles using multiplex ligation-detection. Sci Rep. 2016 Aug 25;6:32048.
  • Harding B, Moccia A, Soukarieh O, Drunat S, Chitty L, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Passemard S, Martins A, Di Cunto F, Bielas SL. Mutations in Citron-Kinase cause recessive micro-lissencephaly with multinucleated neurons. Am J Hum Genet. 2016 Aug 4;99(2):511-20.
  • Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Gunel M, Gleeson JG. Biallelic mutations in the kinase domain of citron link mitotic cytokinesis to human primary microcephaly. Am J Hum Genet. 2016 Aug 4;99(2):501-10.
  • Hebbarm M, Prasada H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Kandaswamy KK, Rolfs A, Kamath N, Dalal A, Bielas S, Girisha KM. Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. Am J Med Genet A. 2016 Sep;170(9):2486-9.

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