GENOMIC HETEROGENEITY IN PRIMARY BRAIN TUMORS

Tumors are highly heterogenous entities that evolve in time under the pressure of treatment or just to survive. We are interested in understanding how the genomic profiles of these tumors change in temporal or spatial dimension, and how these changes affect the response to treatment.

Example publications:

• Genomic profiling of sporadic multiple meningiomas

EZ Erson-Omay, et.al. – BMC Medical Genomics, 2022

• Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis

EZ Erson-Omay, AO Çağlayan, N Schultz, N Weinhold… – Neuro-oncology, 2015

• Longitudinal analysis of treatment-induced genomic alterations in gliomas

EZ Erson-Omay, et.al. – Genome medicine, 2017

• Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma

CS Hong, et.al. – NPJ Genomic Medicine, 2020

MOLECULAR PRECISION MEDICINE FOR PRIMARY BRAIN TUMORS

Tumors, especially brain tumors with high inter and intra tumor heterogeneity, require personalized approaches for most effective treatments. Deciphering the molecular architecture for each and every tumor is essential for precision medicine efforts to succeed.We are using and developing computational analysis methods to guide the genomic characterization arm of precision medicine efforts at Yale.

Example publications:

• Novel EWSR1-VGLL1 fusion in a pediatric neuroepithelial neoplasm

AJ Kundishora, et.al.- Clinical genetics, 2020

• Hypermutated phenotype in gliosarcoma of the spinal cord

CS Hong, et.al. – NPJ precision oncology, 2021

SINGLE CELL AND SPATIAL RESOLUTION BRAIN TUMOR MULTI-OMICS

Single cell multi-omics is an emerging technique providing solutions to many inherent problems of various brain tumors that hampered the discovery of molecular mechanisms. We are building our preliminary data and infrastructure to apply these techniques to many interesting problems.

BIOINFORMATICS ANALYSIS COLLABORATIONS

We love to collaborate ! Over the years we worked with other labs across different departments on other cancer types, neurodegenerative diseases and clinical research. We will keep working with our colleagues and expand our interests.

Example publications:

• Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations

S Vilarinho*, EZ Erson-Omay*, AS Harmanci, R Morotti, G Carrion-Grant, … Journal of hepatology 61 (5), 1178-1183, 2014

• Whole Exome Sequencing of an Exceptional Longevity Cohort

SSM Nygaard HB, Erson-Omay EZ, Wu X, Kent BA, Bernales CQ, Evans DM, Farrer …J Gerontol A Biol Sci Med Sci, 2018

• Exome Analysis of the Evolutionary Path of Hepatocellular Adenoma-Carcinoma Transition, Vascular Invasion and Brain Dissemination

S Vilarinho, EZ Erson-Omay, K Mitchell-Richards, C Cha, …J Hepatol., 2017

• Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

K Mishra-Gorur, AO Çağlayan, AE Schaffer, C Chabu… – Neuron, 2014