Partnership Opportunities

Understanding Neurodevelopmental Disorders

Studying drivers of autism, epilepsy, and rare neurogenetic conditions for preclinical therapeutic development

Technology Overview

Kim AldingerDr. Kimberly Aldinger

Early brain development is guided by both genes and nongenetic factors. Gene variants that act during neurodevelopment contribute to brain malformations, childhood epilepsy, intellectual disability, cerebral palsy, and autism. Identifying ways to prevent and treat neurodevelopmental disorders requires understanding the genetic, molecular, and cellular pathways underlying them.

Dr. Aldinger integrates in vitro, in vivo, and computational methods to characterize the mechanisms of neurodevelopmental disorders. Her research includes investigating genetic factors such as variants in the MAST4 gene, a microtubule-associated serine/threonine kinase linked to a type of epilepsy. Dr. Aldinger is defining the MAST4 interactome, and studying the impact of MAST4 mutations and how to regulate their expression.

To advance understanding of developmental disorders and find potential diagnostic and therapeutic targets, Dr. Aldinger and colleagues used single-nucleus transcriptomics to generate the Developmental Cell Atlas of the Human Cerebellum. The atlas has expression profiles and molecular characteristics of specific cell types during a defined period of human brain development. The researchers are continuing to expand this atlas and use it for molecular and cellular characterization of human cerebellar development and disease.

Using exome sequencing on hundreds of DNA samples, Dr. Aldinger and colleagues identified genetic and nongenetic contributors to cerebellar anomalies such as Dandy-Walker malformation and cerebellar hypoplasia. This work strongly supports a connection between vascular aberrations and cerebellar malformations. The study identified links between cerebellar hypoplasia and gain-of-function mutations in PDGFRB, a platelet-derived growth factor receptor that is essential in vascular development.

Dr. Aldinger established model systems of induced pleuripotent stem cells and human neuronal cells. These iPSCs and cell lines can be engineered to express patient-derived gene variants to study their effects on vascular and neural development. Potential uses of these systems include screening molecules and methods for modulating the impact of the gene variants.

Dr. Aldinger is interested in industry partnerships to advance understanding and future regulation of genes linked to neurodevelopmental disorders, including with antisense oligonucleotide technology.

Stage of Development

  • Pre-clinical in vitro
  • Pre-clinical in vivo

Partnering Opportunities

  • Collaborative research and development
  • Sponsored research agreement
  • Consultation agreement
  • Collaborative animal model development


  1. Haldipur P, Millen KJ, Aldinger KAHuman cerebellar development and transcriptomics: Implications for neurodevelopmental disorders. Annu Rev Neurosci. 2022;45:515-531.
  2. Aldinger KA, Thomson Z, Phelps IG, et al. Spatial and cell type transcriptional landscape of human cerebellar development. Nat Neurosci. 2021;24(8):1163-1175.
  3. Aldinger KA, Timms AE, Thomson Z, et al. Redefining the etiologic landscape of cerebellar malformations. Am J Hum Genet. 2019;105(3):606-615.

Learn More

To learn more about partnering with Seattle Children’s Research Institute on this or other projects, email the Office of Science-Industry Partnerships