What is the molecular genetic basis of neurodevelopmental disorders?
Welcome to the Girirajan Lab website!
The primary focus of our research is to discover and characterize genetic changes including genomic deletions and duplications and single nucleotide mutations contributing to neurodevelopmental disorders such as autism, intellectual disability, schizophrenia, epilepsy and congenital malformation.

The Girirajan laboratory is interested in untangling the genetic and phenotypic heterogeneity associated with neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, epilepsy, and intellectual disability. There is extensive genetic heterogeneity (i.e. more than one gene or genomic region implicated) for neurodevelopmental disorders, suggesting a larger genetic target. Even among individuals carrying the same genetic variant, significant phenotypic heterogeneity (difference in the clinical presentation) has been documented. This has posed considerable challenges in understanding the role of discovered genetic variants in terms of disease causation, diagnosis, and interpretation for management and treatment. The function of these variants in the etiology and pathogenesis of neurodevelopmental disorders is unknown. Our research incorporates high-throughput genomic techniques including array comparative genomic hybridization, genome and transcriptome sequencing, computational approaches, and model organisms to understand the genetic basis of human complex disease.

Our ongoing projects and long-term goals are related to the following: Our lab combines experimental human genetics, functional genomics in model organisms, and computational genomics to understand the molecular etiology of neurodevelopmental disorders. We welcome applications from talented and committed individuals who are interested in studying human disease. Please send inquiries to sxg47 [at]

Girirajan lab affiliations:
Recent news:

16p12.2 deletion recruitment

The Girirajan Lab is now recruiting patients and families carrying the 16p12.2 deletion for a study on the clinical variability associated with this disorder. If you are interested in participating, please fill out the questionnaire here.

Neurodevelopmental phenotypes are modulated by rare mutations in the genetic background

A project led by graduate student Lucilla Pizzo found that the burden of rare mutations in the genetic background can explain differences in clinical features of patients with the same disease-associated mutation. This study was recently published in Genetics in Medicine.

Complex genetic interactions within the 16p11.2 CNV contribute to neurodevelopmental defects

A project led by post-doctoral scholars Janani Iyer and Dhruba Singh used Drosophila models to show that multiple genes within the 16p11.2 CNV region interact with each other through conserved cell proliferation pathways, leading to defects in neuronal development. This study was recently published in Nature Communications.