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Research

Our current research topics below.
Our lab has a long-standing commitment to gene discovery in neurodevelopmental disorders. To circumvent the challenges associated with genetic and phenotypic heterogeneity of neurodevelopmental disorders, we perform genetic analysis of consanguineous families (those that have recent shared ancestry), especially those with multiple affected individuals. 
The second arm of Neurogenetics study in the lab is identifying genetic factors that underlie intracranial aneurysm. For this purpose, we focus on two different approaches: (1) Genome-wide association studies (GWAS) of intracranial aneurysm and (2)  ‘common disease - rare variant’ hypothesis.

We are also exploiting the power of bioinformatics to identify novel mutations that drive the initiation and progression of brain tumors. Based on the CBTRUS 2006-2010 report, the overall average annual incidence rate for primary brain and CNS tumors was 21.04/100,000, 7.27/100,000 for malignant tumors. 68,184 individuals deceased between 2006-2010 due to malignant brain and central nervous system tumors. The same report estimated new cases for 2014 to be 66,240. 

We have been able to translate various complementary cutting-edge genomic technologies, which were once solely research tools, to our clinical programs to analyze individual cancers. We can now gain comprehensive understanding of the molecular make-up of a cancer to pinpoint specific vulnerabilities and leverage these weak spots for precision treatments in our Recurrent Brain Tumor Treatment Program.