Download Profile #857

Profile #857
Profile #857 - Medical University Vienna, Department of Psychiatry and Psychotherapy - Austria
Date: 2005/08/14
Deadline: 2013/12/31
Contact
Organisation
Medical University Vienna,
Department of Psychiatry and
Psychotherapy
Department
Contact
person
Aschauer, Associate Professor , MD Harald
Email
[email protected]
Address
Währinger Gürtel 18-20
Postcode
1090
Country
Austria
Telephone
+43 1 40400 3543
City
Vienna
Fax
+43 1 40400 3560
Website
Organisation
Type:
Research Organisation & Universities
Is a Small and Medium Sized Enterprise (SME)? NO
Number of
Employees
249
Clinical Department of
Biological Psychiatry
Description of
research
activity:
1. "Putative endophenotypes in patients with schizophrenia, their relatives and
matched healthy controls"
Nilufar Mossaheb, Monika Schlögelhofer, Rainer Kaufmann, Harald Aschauer
We aim at assessing specific impairments, shown to be associated with these
disorders, such as cognitive deficits, impairments in facial emotion recognition, in
smell identification and reduced niacin skin flush response for fulfilment of
established criteria of putative endophenotypes - measurable, stable, stateindependent components underlying simpler genetic pathways than the complex
psychopathology - in patients with a diagnosis of schizophrenia-spectrum disorder,
their first- and second-degree relatives and matched healthy controls.
2. "Effects of duration of untreated psychosis (DUP) on outcome in patients with
first episode psychosis (FEP)"
Monika Schlögelhofer, Nilufar Mossaheb, Rainer Kaufmann, Harald Aschauer
The aim of the study is to assess DUP and its effects on outcome and cognition
(working memory, IQ) in a longitudinal sampel of FEP patients in a two-centre trial
(Vienna, Austria and Lahore, Pakistan)
3. Chromosome 3q29: Association study of schizophrenia (and bipolar disorder)
after positive linkage finding.
Alexandra Schosser, Nilufar Mossaheb, Rainer Kaufmann, Monika Schlögelhofer,
Harald Aschauer
Summary:
Within a published genome scan (Bailer et al. 2002, Biological Psychiatry 52:40),
conducted by our group, we found suggestive evidence for linkage of schizophrenia
and bipolar affective disorder with marker D3S1265 (NPL score Zall=3.74,
p=0.0003), mapping to chromosome 3q29. We subsequently established a follow
up fine mapping of the 3q29 region by linkage study, in order to narrow down a
possible susceptibility locus (Schosser et al. 2004, J Psychiatric Res 38:357; p value
0.0321 with rs1835669). We genotyped 11 further SNP markers flanking the fine
mapped region of highest linkage on 3q29, resulting in significant linkage scores
(p=0.000156, rs225; Schosser et al. 2007, Eur Neuropsychopharm 17:501) most
telomeric, spanning a region of 3.46 Mbp (Mega base pairs).
The aim of further studies is the identification of (a) disease associated gene(s) in
the region of highest linkage. We plan to conduct an association study (casecontrol-design) targeting the identified 3-Mbp�region within an
independent sample of cases (schizophrenia (and affective disorder)) and controls,
trying to replicate and confirm our previous chromosome 3q29 linkage findings. We
will apply the multistage-screening-approach described by Hirschhorn et al. (2005)
to increase efficiency: In stage one, the full set of SNPs will be genotyped in a
fraction of samples, using a liberal p-value treshold (p=0.05) to identify a subset of
SNPs with putative associations. All markers that pass the threshold are then tested
in a second, independent population sample.
4. Genetic association study in recurrent major depressive disorder.
Alexandra Schosser, Monika Schlögelhofer, Harald Aschauer
Clinical sampling of a replication sample in Vienna: patients with recurrent major
depressive disorder and healthy matched controls. Replication study of molecular
genetic association findings (hot spots in whole genome association studies) in
cooperation with European centres.
Former participation in an FP European
project? YES
Project title / Acronym:
Biomed 1
Activities performed::
Genetic association study in schizophrenia
Research topics
• HEALTH- 2009-2.2.1-2: Identifying genetic and environmental interactions in schizophrenia. FP7HEALTH-2009-single-stage.
• HEALTH- 2009-2.2.1-3: Optimising current therapeutic approaches to schizophrenia. FP7-HEALTH2009-single-stage.
Expertise/commitment offered
Keywords
specifying the
expertise:
Psychiatric genetics, schizophrenia, bipolar illness, major depressive disorder,
first episode psychosis, treatment
Description of the
expertise:
Various studies in psychiatric genetics
extensive expertise in schizophrenia research
first episode psychosis
bipolar affective disorder
major depressive disorder
cognitive behavioral treatment
Commitment
offered
Research
Expectations
Term
commitment:
Long ( > 3 years)
Expected results
for your
organisation:
Further involvement in international efforts to study basis of psychiatric
illnesses