Lizarraga Lab
Principal Investigator: Sofia Beatriz Lizarraga
Institution: Brown University (Providence, RI)
Primary Subfield: Neuroscience
Recruitment Status: ✅ Accepting PhD Students ✅ Hiring Postdocs
Research Focus
ABSTRACT Genetic research in autism spectrum disorder (ASD) has led to the discovery of a growing list of highly penetrant mutations in chromatin modifiers and transcription factors. This recent progress provides an important opportunity to define the molecular mechanisms in ASD, as well as to identify targets for new treatment strategies. However, given the large number of seemingly independent ASD risk factors, a major challenge for ASD research is to establish convergent mechanisms that group apparently distinct genetic etiologies. We identified a novel point of convergence between the histone-methyltransferase ASH1L, a major ASD genetic risk factor, and a cluster of ASD high-risk genes (e.g. FOXP1, RIMS1, NRX1a). We also find that ASH1L counteracts the activity of Polycomb repressor complex in neural development. Hence, our data uncover a transcriptional and epigenetic node linked to cell and circuit dysfunction underlying ASD phenotypes. However, the transcriptional programs modulated by ASH1L that lead to neuronal dysfunction are understudied. Our central hypothesis is that ASH1L counteracts Polycomb activity to orchestrate neuronal development by modulating transcriptional p…
Active NIH Awards
- 5R01MH127081-05: ASH1L mediated transcription networks in autism spectrum disorders (2026)
- 5R21MH136643-02: Uncovering sex-specific differences in ASH1L-disease (2025)
- 5R01MH127081-04: ASH1L mediated transcription networks in autism spectrum disorders (2025)
- 3R01MH127081-03S2: ASH1L mediated transcription networks in autism spectrum disorders (2024)
- 5R01MH127081-03: ASH1L mediated transcription networks in autism spectrum disorders (2024)
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