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.

Cross-ancestry analysis identifies genes associated with obesity risk and protection Banerjee D, Girirajan S*. Gene discoveries in obesity have largely been based on European cohorts, leading to an ancestral bias, that limits their generalizability across populations.

Santhosh Girirajan Principal Investigator. Corrine Smolen Graduate Student Bioinformatics & Genomics I'm interested in integrating computational and experimental approaches to understand factors underlying variability in genetic disorers. To do that, I work with data from our in-house patient cohort and large-scale biobanks and perform ...

As an independent investigator at Penn State, my research combines gene discovery and dissecting phenotypic heterogeneity using large-scale genomic studies (Polyak et al, Genome Med. 2015; Polyak et al, AJMG, 2015; Pizzo et al, EJHG, 2016) with studying the molecular functions and mechanisms of CNV pathogenicity in model systems (Iyer and ...

The Girirajan lab is studying the complex genetics and mechanistic basis of neurodevelopmental disorders such as intellectual disability, autism, and schizophrenia using genome sequencing and functional studies involving mouse, fruit flies, and cell culture models.

Santhosh Girirajan, MBBS, PhD T. Ming Chu Professor of Biochemistry and Molecular Biology, Professor of Genomics Department of Biochemistry and Molecular Biology Department of Anthropology 205A Life Sciences Building Pennsylvania State University University Park, PA 16802 E-mail: [email protected] Phone: 814-865-0674 Laboratory 205 Life Sciences ...

The Girirajan lab is currently seeking to understand the biological basis of how the second hits influence the spectrum of clinical symptoms associated with neurodevelopmental disorders, from intellecual disability and autism severity to head circumference and BMI.

I teach two courses, Genomics (BMMB/MCIBS 551) for graduate students in the Fall semester and Functional Genomics (BMB 484) in the Spring semester. Genomics 551 is aimed at first or second year graduate students, and is intended to introduce students to concepts in genomics.

The 16p12.2 deletion (previously termed 16p12.1 deletion) is significantly associated with neurodevelopmental disease, and occurs at a frequency of 1 in 2,000 live births.

The 16p13.11 deletion is significantly associated with neurodevelopmental diseases, and is observed in approximately 1 in 2000 live births. The primary 16p13.11 deletion spans 7 genes of interest: BMERB1, MARF1, NDE1, MYH11, FOPNL, ABCC1 and ABCC6 (right figure). A wide array of clinical features have been associated with the 16p13.11 deletion.