Developmental Genetics and Neurobiology

We study how developmental programs generate cellular phenotypes in the brain, and how changes in these programs contribute to brain evolution and disease.

Our Research

Our research centres on the cerebellum, a brain region traditionally known for controlling movement and balance but increasingly recognized for its roles in cognition, emotion, social behaviour, and language. Containing about 80% of all the neurons in the human brain, the cerebellum has likely played critical roles in the evolution of human cognitive abilities, and its dysfunction is implicated in the pathology of neurodevelopmental disorders.

We investigate how genetic variants associated with autism spectrum disorders (ASD) and related neurodevelopmental disorders affect the development of cerebellar cells and whether human-specific aspects of cerebellum development are vulnerable to these variants. We also explore how genes with species- or clade-specific expression patterns contribute to cerebellum development and the establishment of its structure and function.

We employ a range of methods and approaches, including mouse genetic models, human iPSC-derived organoids, single-cell sequencing, spatial transcriptomics, CRISPR-based perturbations, enhancer reporter assays, and sparse or cell type-specific labeling of cellular morphology.

Our Values

We think boldly and work rigorously. We value curiosity, creativity, depth, perseverance, integrity, and transparency in how we do science.

We help each other grow. We teach, mentor, collaborate, and celebrate each other’s progress.

We value diverse perspectives. We believe different backgrounds, experiences, and ways of thinking fuel discovery.

Selected publications

Gene regulatory innovations from transposable elements in primate cerebellum development
Yamada, T., Sepp, M., Sarropoulos, I. et al. (2026)
Nat Commun Link

REVIEW: Evolutionary perspectives on the development of the mammalian cerebellum: From cellular diversity to gene regulatory programs
Yamada, T., Sarropoulos, I., Sepp, M. (2026)
Current Topics in Developmental Biology Link

The evolution of gene regulation in mammalian cerebellum development
Sarropoulos, I., Sepp, M., Yamada, T. et al. (2026)
Science Link

Cellular development and evolution of the mammalian cerebellum
Sepp, M., Leiss, K., Murat, F. et al. (2023)
Nature Link

Developmental and evolutionary dynamics of cis-regulatory elements in mouse cerebellar cells
Sarropoulos, I., Sepp, M., Frömel, R. et al. (2021)
Science Link

The Intellectual Disability and Schizophrenia Associated Transcription Factor TCF4 Is Regulated by Neuronal Activity and Protein Kinase A
Sepp, M., Vihma, H., Nurm, K. et al. (2017)
J. Neurosci. Link

Pitt–Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects
Sepp, M., Pruunsild, P., Timmusk, T. (2012)
Human Molecular Genetics Link

Team Publications Links & Resources Open Positions