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Copy number variation and endophenotypes in psychiatric disorders (PSYCHGENE)
Sampling and clinical phenotyping

JOB DESCRIPTION:

We seek a person to work on sampling and phenotyping of psychiatric patients (mostly schizophrenia) and their close family members. You will work with other researchers in clinical psychiatry and molecular genetics; and See project description for further details.

Requirements: Applicants should be experienced with the use of SCAN, OPCRIT or other instruments for psycho-pathological examination and in possession of good Danish skills. Knowledge of Clinical genetics and Genetic counselling is an advantage. It is required that you are not a Danish citizen or that you have worked outside Denmark for the past three years.

Settings: The duration of employment is 18 months, preferably starting from Sept. 1st 2009. The employer, Mental Health Centre Sct. Hans, is located in Roskilde close to Copenhagen. The employer if required can provide accommodation in Roskilde during the employment. Salaries and benefits are in accordance to specifications for Marie Curie experienced researchers, under People actions by the European Commission. 25% researcher taxation of Non-Danish nationals will apply.

PROJECT DESCRIPTION:

Background: The year 2008 marked a breakthrough in the search of genetic variants underlying schizophrenia and other severe neurodevelopmental disorders. The discoveries – brought about through recent technological advancements – have highlighted an emerging role of genomic rearrangements (copy number variation; CNV) in the pathogenesis of these disorders.

Scope: To examine the genotype-phenotype relation of CNV-carrying schizophrenia patients and their close relatives.

Strategy: The project will specifically target sporadic cases with severe schizophrenia (i.e. cases with two disease-free parents) and cases with a clear monogenic pattern of segregation (i.e. cases with minimum one parent and one sibling with schizophrenia or cases with at least two diseased children), and perform detailed phenotyping of CNV-carrying patients and their close relatives.

Rationale: The targeted recruitment described above will ensure that genotypic and phenotypic data on patients can always be directly compared with healthy or diseased relatives and greatly facilitates identification of genotype-specific phenotypes. The enrolment of severe cases of schizophrenia increases the probability that the patients are carriers of correspondingly deleterious forms of CNVs or SNPs. CNV-carrying patients will be matched one-to-one with a non-carrying patient and careful phenotyping carried out on both patients and their close relatives.

Methods: Relevant cases (and relatives) will be identified among already recruited schizophrenia patients participating in Danish Psychiatric Biobank, from medical discard records and the Central Psychiatric Research Registry, or recruited through collaborating clinical departments in particular children and youth psychiatric wards. All participants will initially be diagnosed (when relevant) using ICD10 research criteria. Following genetic analysis subjects carrying high-risk CNVs or SNPs will be thoroughly psycho-pathologically examined using the SCAN instrument; and asked to fill out a questionnaire, and to participate in a structured interview about life style and family history incl. possible exposure to environmental risk factors of the parents and the maternal grandmother. Identical assessment will be performed for the matched control patients and all relatives. Standard statistical regression models as well as advanced data-mining tools (incl. latent class analysis) will be used to examine the diagnostic, symptomatological and prognostic correlate of the high risk CNVs and SNPs.

For further information, please contact: Thomas Werge Head, Research Institute of Biological Psychiatry Home of Danish Psychiatric Biobank Mental Health Center Sct. Hans Copenhagen University Hospital Ph: +45 4633 4968 thomas.werge@shh.regionh.dk http://www.psykiatriskbiobank.dk/ Applications should be delivered to Dr Werge by May 31st 2009.