Name Jacobine Buizer-Voskamp
Department of Psychiatry
Section Genetic basis of developmental disorders
Function PhD-student
E-mail:
J.E.Buizer@umcutrecht.nl Telephone number: 088 – 755 1376
Supervisors Prof. dr. R.S. Kahn and dr. R.A. Ophoff
Title research The identification of genes involved in schizophrenia and related disorders
Summary research Part 1:
In continuation of the genome wide association study (GWAS) in schizophrenic patients and healthy controls, our main goal was to collect a replication sample to investigate the significant results of the GWAS in a similar sample.
Part 2:
Genomic variability can be present in many forms, including single nucleotide polymorphisms (SNPs), variable number of tandem repeats, and structural alterations (e.g. deletions, duplications, and inversions). Until recently, SNPs were thought to be the predominant form of genomic variation and to account for much normal phenotypic variation, but also in disease susceptibility and severity. However, recent insights point out to the significance of copy number variation (CNV). CNVs are defined as DNA segments that are 1 kb or larger in size present at variable copy number in comparison with a reference genome.
CNVs are relevant to the study of schizophrenia. For example, it is possible that novel, rare CNVs may play a role in schizophrenia in a small number of families. The main focus of my study is to examine psychiatric patients for chromosomal defects, which is bound to identify novel and informative schizophrenia candidate genes. As a part of this study, the GWAS data will be used to investigate CNVs, comparing patients and controls.