Sampathkumar Rangasamy

Sampathkumar Rangasamy Ph.D.

Research Assistant Professor
Neurogenomics

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 with Dr. McGuire and Dr. Das and Barrow Neurological Institute with Dr. Narayanan 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 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 alteration to understand the biology in the affected person. Characterization of cellular phenotype and molecular information from patient cell lines and model organisms are important strategies to understand the biology. Dr. Rangasamy utilizes the mouse, zebrafish, and human iPSC-derived neuronal models to understand the molecular and cellular basis of diseases. Additionally, his research is also focused on identifying disease-specific cellular phenotype for the development of high-throughput (HTS) screening assay to identify novel therapies.

Within the Neurogenetics program, he has the following research interest relevant to the Center for Rare Childhood Disorders:

  • Characterising mTOR and insulin-like growth factor (IGF-1) signaling pathway in Rett syndrome, a rare, severe neurological disorder that affects mostly girls.
  • To investigate the molecular basis of phenotypic variability in Tuberous Sclerosis (TSC) using Next Generation Sequencing Technology (NGS).
  • Studies on epileptic encephalopathy caused by single gene defect (DNM1) using zebrafish and iPSC derived neuronal cell model to understand cellular phenotype and to develop a precision therapy.
  • To understand the role of mitochondrial dysfunction in neurogenetics disorders.

Dr. Rangasamy expertise includes include genetics, cell culture, and microscopy, iPSC, mouse and Zebra fish modeling of disease. Other areas of interest include diabetic retinopathy (DR), a neurovascular complication of diabetes in collaboration with Dr. Arup Das and Dr. Paul McGuire from University of New Mexico.


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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, et al. Seminars in Pediatric Neurology, 2017.

Phenotypic variability and mTOR pathway gene aberrations in familial tuberous sclerosis. Liang WS, Sekar S, Nasser S, Adkins J, Cuyagan L, Enriquez D, Rangasamy S, Narayanan V.  J Pediatr Neurol, 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. F1000Research 2016, 5:2269.

Chemokine mediated monocyte trafficking into the retina: role of inflammation in alteration of the blood-retinal barrier in diabetic retinopathy. Rangasamy S, McGuire PG, Franco Nitta C, Monickaraj F, Oruganti SR, Das A. PLoS One. 2014 20;9(10).

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