Sampathkumar Rangasamy

Sampathkumar Rangasamy Ph.D.

Research Associate Professor

Sampathkumar Rangasamy Ph.D.

Dr. Rangasamy received his Ph.D. in Biochemistry from the University of Madras, India, and subsequent post-doctoral training at the University of New Mexico and Barrow Neurological Institute (BNI) before moving to TGen as a Research Assistant professor in Neurogenomics Division.

The primary focus of his research is to investigate the cellular and molecular mechanisms underlying neurogenetics disorders. The use of next generation sequencing technology (NGS) in the clinical setting has resulted in advancing the genetic diagnosis of numerous neurodevelopmental disorders. As a result, neurogenetics has moved from being a discipline of clinical description and classification to a molecular science discipline-based on neurobiology. Once the gene is identified, scientists can ask comprehensive questions about the molecular alterations in affected person to understand the disease pathogenesis. Dr. Rangasamy utilizes the mouse, zebrafish, and human iPSC-derived neuronal models to understand the molecular and cellular basis of neurogenetic diseases. His research is also focused on identifying disease-specific cellular phenotype for the development of high-throughput (HTS) screening assay to develop novel therapies.

Within the Neurogenetics program, he has the following research interest relevant to the Center for Rare Childhood Disorders (C4RCD):
  • Molecular therapies for Rett syndrome (A rare, severe neurological disorder that affects mostly girl)
  • Understanding the role of genetic modifiers in Tuberous Sclerosis (TSC) to identify novel drug targets
  • Mitochondrial Disorders: From diagnosis to therapeutics
  • Functional genomics studies on rare neurogenetic disorders

Other areas of research interest include studies on diabetic retinopathy (DR), a neurovascular complication of type 1 and type 2 diabetes. The current far-reaching concept of diabetes does not effectively delineate the clinical subtype or stratification of the progression of diabetic complications (heart, kidney, and eye). To address these gaps, in collaboration with University of New Mexico, Dr. Rangasamy, uses a well-defined phenotypic and functional genomics strategy to understand the role of genetic modifiers in diabetic retinopathy (DR).



Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. Szelinger, S., Krate, J., Ramsey, K., Strom, S. P., Shieh, P. B., Lee, H., … Rangasamy S (2020). Neurology. Genetics, 6(4), e468.

Transcriptomics analysis of pericytes from retinas of diabetic animals reveals novel genes and molecular pathways relevant to blood-retinal barrier alterations in diabetic retinopathy.  Rangasamy S, Monickaraj, F., Legendre, C., Cabrera, A. P., Llaci, L., Bilagody, Das, A. (2020). Experimental Eye Research

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). Llaci, L., Ramsey, K., Belnap, N., Claasen, A. M., Balak, C. D., Szelinger, S., … Rangasamy, S. (2019). Human Genetics, 138(11-12), 1409–1417.

Neonatal epileptic encephalopathy caused by GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard A, Balak C, Russell M, Richholt R, Matt De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig D, Rangasamy S, Narayanan V.. et al. Seminars in Pediatric Neurology, 2017.

Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model.  Rangasamy S, Olfers S, Gerald B, Hilbert A, Svedja S, Narayanan V. F1000 Research 2016, 5:2269.

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