Özçelik Lab

Research Title: Neurodevelopmental Disorders

Research Summary:

  • Identification of inherited gene mutations
  • Neurodevelopmental disorders
  • X-chromosome inactivation and autoimmunity
  • Genetic predisposition to cancer


The focus of research in our laboratory is characterization of mutations and mechanisms that lead to genetic disorders in humans. In the past (Francke Lab.), we determine the chromosomal localization of cloned genes in human and mouse to identify the molecular basis of inherited diseases by candidate gene approach. We also mapped a form of spastic paraplegia segregating in a large Turkish kindred to Xq11. Determination of disease causing gene mutations is instrumental in making precise genotype-phenotype correlation, and also gives important insight into the function of the gene. Behçet's disease is a systemic vasculitis associated with venous thrombosis. Our laboratory identified coagulation factor V Leiden and prothrombin gene mutations as important risk factors that contribute to the development of venous thrombosis in Behçet's disease. Characterization of genetic alterations that lead to tumorigenesis is another focus of research in our laboratory. We are determining the spectrum of germ-line BRCA1 and BRCA2 gene mutations in hereditary breast/ovarian cancer. We also study inherited genetic susceptibility factors in sporadic cancers by determining the allele and genotype frequencies of various drug metabolizing enzymes such as GSTM1, GSTT1, GSTP1, and NAT2 using bladder cancer and breast cancer as model diseases. Lastly, we are working on a neurodevelopmental disorder named Rett syndrome. Conducting these experiments is laborious but ultimately allows the identification of disease causing genes and pathogenetically relevant mutations. In fact we have identified the phenotypic consequences of a homozygous germ-line tumor suppressor gene mutation namely MLH-1 deficiency in human. Further experiments can then be designed to deternine the expression patterns, gene regulation, and function; to understand the basis of gene's malfunction in disease states; and to devise diagnostic tests and rational treatment strategies.

Research Keywords: Human Genetics, Hereditary Disorders, Neurodegenerative Diseases

Office : SB 238
Phone : +90 312 290 2139
Fax : +90 312 266 5097
Email : tozcelik@bilkent.edu.tr