Biochemistry and Molecular Biology
Penn State Science
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BMB Welcomes Dr. Santhosh Girirajan

BMB Welcomes Dr. Santhosh Girirajan

Dr. Santhosh Girirajan

The BMB department extends a warm welcome to Dr. Santhosh Girirajan.  Dr. Girirajan joined the Department of Biochemistry and Molecular Biology in July, 2012. Dr. Girirajan is settling into his new lab in 205A Life Sciences Building and looks forward to getting to know the BMB family.

Originally from Bangalore, India, Dr. Girirajan is a physician by training (MBBS) from Bangalore University and obtained his Ph.D. degree in Human Genetics from the Medical College of Virginia, Virginia Commonwealth University.  During his graduate studies in the lab of Dr. Sarah Elsea, Dr. Girirajan worked on characterizing the role of the retinoic acid induced 1 (RAI1/Rai1) gene in Smith-Magenis syndrome. Dr. Girirajan performed postdoctoral training in the lab of Dr. Evan Eichler at the Department of Genome Sciences at the University of Washington studying the mechanisms and consequences of copy number variants as applied to evolution and human disease.

The primary focus of his research is to discover and characterize genetic changes including genomic deletions and duplications and single nucleotide mutations contributing to neurodevelopmental disorders such as autism, developmental delay and congenital malformation.

Dr. Girirajan is particularly interested in untangling the genetic and phenotypic heterogeneity of neurodevelopmental disorders.  There is extensive genetic heterogeneity (i.e. more than one gene or genomic region implicated) for neurodevelopmental disorders such as autism and developmental delay suggesting a larger genetic target.  And, even among individuals carrying the same genetic variant, significant differences in the clinical presentation have 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. Dr. Girirajan is interested in combining work on the discovery of genetic variants in children with disease with functional characterization using model organisms to map disease-associated pathways and finding vulnerable targets for therapy.  He also plans to develop novel methods to understand and characterize genes and gene products relevant to developmental processes.

Please stop by the Life Sciences Building to welcome Dr. Girirajan and his lab members as they join our department's investigative efforts.