Our projects

Cortical organoid models of autism

Rare and de novo single nucleotide variants (SNVs) are major risk factors for Autism Spectrum Disorders (ASD). The majority of ASD-associated SNVs affect a single allele of a gene, leading to haploinsufficiency.

Learn more

The Impact Of Environmental Factors On Fetal Brain Development

Neurodevelopment is a complex and highly regulated process, vulnerable to disruption by various external factors. Exposure to harmful substances during pregnancy can have lasting consequences on brain development, leading to neurodevelopmental disorders or impaired cognitive function.

Learn more

Improving Variant Effect Predictors using Tissue Specific Splicing Isoform Expression

exTSP (expression-based Tissue-Specific Pathogenicity) is a scoring system that evaluates how genetic variants affect transcripts expressed in specific tissues. By focusing on isoform expression, exTSP enhances our understanding of disease-related variants and their tissue-specific consequences.

Learn more

Mouse Models Of Neurodevelopmental Disorders

Rare and de novo single nucleotide variants (SNVs) are major risk factors for Autism Spectrum Disorders (ASD). The majority of ASD-associated SNVs affect a single allele of a gene, leading to haploinsufficiency. Correcting haploinsufficiency by increasing the expression level of the deficient allele could provide an attractive strategy for ASD treatment.

Learn more

Recent Publications

This is the research of the future!

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism

Reciprocal deletion and duplication of the 16p11.2 region is the most common copy number variation (CNV) associated with autism spectrum disorders. We generated cortical organoids from skin fibroblasts of patients with 16p11.2 CNV to investigate impacted neurodevelopmental processes. We show that organoid size recapitulates macrocephaly and microcephaly phenotypes observed in the patients with 16p11.2 deletions and duplications. The CNV dosage affects neuronal maturation, proliferation, and synapse...

Learn more

Full-length isoform transcriptome of the developing human brain provides further insights into autism.

Alternative splicing plays an important role in brain development, but its global contribution to human neurodevelopmental diseases (NDDs) requires further investigation. Here we examine the relationships between splicing isoform expression in the brain and de novo loss-of-function mutations from individuals with NDDs. We analyze the full-length isoform transcriptome ...

Learn more

Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

E3-ubiquitin ligase Cullin3 (Cul3) is a high confidence risk gene for autism spectrum disorder (ASD) and developmental delay (DD). To investigate how Cul3 mutations impact brain development, we generated a haploinsufficient Cul3 mouse model using CRISPR/Cas9 genome engineering. Cul3 mutant mice exhibited social and cognitive deficits and hyperactive behavior...

Learn more

Recent News

$12.7M Grant to Establish New Center to Investigate Genetic Basis of Autism and Schizophrenia

Funded by a California Institute for Regenerative Medicine grant, researchers in the UC San Diego Verge Center aim to uncover the genetic mechanisms behind neuropsychiatric disorders.

Learn more Link to All News