Pennsylvania State University-Main Campus · BiochemistryThe Chromosomal Interaction Lab
Santhosh Girirajan · University Park, Pennsylvania
Research Focus
Dr. Santhosh Girirajan's lab at Penn State University focuses on understanding how genetic variations lead to different developmental and behavioral outcomes in individuals with complex disorders. The research primarily investigates the effects of a specific chromosome deletion (16p12.1) and how it interacts with other genetic factors to influence susceptibility to conditions such as neurodevelopmental disorders. By studying these interactions in model organisms, the lab aims to shed light on the mechanisms behind phenotypic variability and improve strategies for diagnosis and treatment.
chromosomal deletionphenotypic variabilityneurodevelopmental disordersgenetic interactionsDrosophilazebrafishcopy number variationclinical outcomesgenetic counseling
Research Aims
3AIM 01Perform whole genome sequencing on families with the 16p12.1 deletion to identify genetic factors influencing phenotypic variability.
AIM 02Assess second-hit variants in various populations to uncover patterns unique to specific genetic disorders.
AIM 03Conduct functional studies in model organisms to determine how genetic interactions impact neuronal development.
Skills the Lab Values
whole genome sequencinggenetic analysiscell cultureDrosophila melanogaster experimentszebrafish modelingphenotypic characterizationsbioinformaticsdata analysisstatistical genetics
Output against the department
Publications519top 8% of dept.33rd of 402
this lab
most publishedleast published
Citations14ktop 35% of dept.141st of 402
this lab
most citedleast cited
Career totals from OpenAlex, compared against labs that share a department. A department spans everything from one paper to tens of thousands, so bar heights are on a log scale — otherwise the largest lab would flatten every other bar to a line.