Research

Research Overview

Oktay I. Kaplan and Sebiha Cevik lead a research group dedicated to uncovering the genetic and molecular mechanisms driving rare diseases, with a particular focus on ciliopathies. By integrating comparative genomics, functional assays in C. elegans, CRISPR/Cas9 gene editing, and cutting-edge bioinformatics, the Kaplan Lab aims to bridge the gap between genotype and phenotype in cilia-related diseases.

Cilia & Ciliopathies

We study Joubert syndrome, Bardet-Biedl syndrome, and cranioectodermal dysplasia to identify causative genes and understand their roles in disease pathogenesis.

Disease Modeling

Using whole exome sequencing and CRISPR/Cas9-based functional screening in C. elegans, we distinguish disease-causing variants and comprehend their molecular mechanisms.

Cilia-Cilia Joining

We investigate the molecular machinery involved in cilia-cilia elongation and inter-ciliary communication, critical for ciliary function and related diseases.

Bioinformatics

We develop and maintain open bioinformatics tools — CiliaHub, CiliaAtlas, CilioGenics, and CiliaMiner — to facilitate research in ciliopathies and rare diseases.