What We Are Doing


The team of researchers at Columbia University’s Institute for Genomic Medicine (IGM) are studying HNRNPU-related neurological symptoms using both mouse and human stem cell models.  Using a variety of functional and gene expression studies, they hope to shed light on potential disease mechanisms that could lay the foundation for future therapies. Specifically, they are working to understand how HNRNPU haploinsufficiency affects neuronal activity and communication, and how this relates to observable phenotypes. Furthermore, through understanding which genes are turned off and on in affected neurons, they aim to identify medicines that can “normalize” (bring back to a typical level) the expression of these genes in hopes that this could treat the major neurological symptoms.  Finally, they are applying new gene therapy strategies to ameliorate or correct phenotypes identified in HNRNPU disease models.

Team Members:

  • David Goldstein, PhD
  • Michael Boland, PhD
  • Wayne Frankel, PhD
  • Erin Heinzen-Cox, PharmD, PhD
  • Sarah Dugger
  • Ryan Dhindsa

Day 17 neural rosettes generated from a human induced pluripotent stem cell model

Neuronal network derived from mice with loss of one copy of HNRNPU

Learn More:What We Know Associated Symptoms Genetics Primer What We Are Doing