Neurodevelopmental disorders (NDDs) are a broad class of conditions arising from disruptions in the genetic, molecular, and cellular programs that govern the formation, organization, and maturation of the central nervous system. These disruptions may occur at any stage—from neural induction and progenitor proliferation during embryogenesis to synaptic refinement in postnatal life. NDDs can be classified along a structural - functional axis:

Structural brain malformations (anatomically observable) are characterized by grossly or microscopically detectable anomalies in brain architecture, typically arising from disturbances in neurogenesis, neuronal migration and cortical organization, such as microcephaly and lissencephaly. Functional cerebrocortical disorders (anatomically non-observable) arise from subtle or invisible disruptions in synaptic connectivity, neuronal circuitry, neurotransmitter homeostasis, and cortical network dynamics, such as schizophrenia and autism spectrum disorders, without frank structural brain malformations detectable by standard neuroimaging, and represent the culmination of polygenic, epigenetic, and gene-environment interactions during corticogenesis and postnatal neurodevelopment.  

We primarily focus on early-onset and familial forms of these complex disorders representing the extreme outliers of the distribution, and utilizing human genetics, multi-omic applications, patient-derived iPSCs and organoids, genome editing and computational analyses, we search for genetic determinants and disrupted mechanisms underlying NDDs distributed over a developmental continuum from structural to functional. 

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Disclaimer: I am not a tumor biologist.

Based on our experience on multi-omic techonology development and application, we work to advance tools for the diagnosis, detection and follow up of brain tumors. These include augmented whole-exome sequencing to target non-coding, tumor-related loci in addition to coding genes, cell-free nucleic acid detection (liquid biopsy), and generation of tumoroids for personalized tumor therapeutics. This work is done in close collaboration with Prof. Murat Gunel, Prof. Koray Ozduman and Assist. Prof. Zeynep Erson-Omay.

An aneurysm is a localized dilatation or ballooning of a blood vessel due to a weakened vessel wall, most commonly occurring in the brain (cerebral aneurysm) or the aorta (aortic aneurysm). While aneurysms can be caused by lifestyle factors such as smoking, hypertension, and trauma, genetics also play an important role, particularly in individuals with a family history of the condition. Intracranial aneurysm (IA), a non-atherosclerotic cerebrovascular disorder, occurs in approximately 3% of adults and rupture causes aneurysmal subarachnoid hemorrhage with approximately 35% mortality and fewer than half of survivors functionally independent at one year. While surgery and endo-vascular treatment are effective, no validated biomarkers exist that can predict IA formation or rupture. Genetic factors may influence the structural integrity of blood vessels, and mutations in genes related to connective tissue maintenance and vascular development have been linked to aneurysm formation, especially in syndromic cases like Ehlers-Danlos or Marfan syndrome. Over the last 20 years, we investigated both common susceptibility variants by genome-wide association studies for sporadic cases, and rare risk mutations by family-based analysis to decipher the genetic architecture of IA formation and rupture. To dissect the perturbed molecular and cellular events associated with the genetic risk, our current efforts include utilization of integrated snRNA-seq and spatial multiomic analyses on IA wall specimens.