Deletion and duplication syndrome 22q11.2

The focus of our research projects on deletion and duplication syndrome 22q11.2. is on the exact assignment of genetic alterations to correlated symptom complexes. Particularly with regard to neuropsychiatric diseases, we aim to identify meaningful markers for disease risk or progression.

Background

The strong correlation between a clearly defined genotype and the increased risk of developing neuropsychiatric morbidity across the lifespan renders deletion syndrome and duplication syndrome 22q11.2 (DS22q11.2) a “natural model” for the neurodevelopmental mechanisms in psychiatric pathogenesis.

Research objective

Multimodal investigations of the phenotype of this patient group will not only help find new strategies in treatment of DS22q11.2, but also generate new insight into neurodevelopmental mechanisms in psychiatric disease not associated with a syndrome.

Main research topics

Our research is in close cooperation with our specialized outpatient service ZEDE22q11.2 and the self-help association KiDS22q11.

Key aspects are: 

  • Extensive clinical phenotyping and survey of therapeutic demands in DS22q11.2 
  • Molecular characterization of the type of deletion/duplication and investigation of the impact of epigenetic mechanisms on the neuropsychiatric phenotype 
  • Characterization of the cellular phenotype in stem cell based neuronal and cardiovascular models
  • Investigation of fear conditioning and fear generalization in the development of anxiety disorder in DS22q11.2
  • Characterization of social cognition and social stress in DS22q11.2
  • Investigation of putative biomarkers

Research Team

Leader:
Prof. Dr. med. Marcel. Romanos

Team:
Dr. med. Franziska Radtke
Thomas Elpel
Zuzana Fouskova
Dr. rer. nat. Julia Geissler
Annette Nowak
Dr. rer. nat. Julia Reinhard 

Clinical stuff:
Patricia Dengler
Tim Güntzel
Louise Haslam
Silke Hauck
Christin Heim
Michéle König
Kristin Möllers

Selected Publications

Marcel Romanos, Martin Schecklmann, Katharina Kraus, Andreas J Fallgatter, Andreas Warnke, Klaus-Peter Lesch, Manfred Gerlach
Olfactory deficits in deletion syndrome 22q11.2.
Schizophr Res 2011 Jul; 129(2-3):220-1. doi:10.1016/j.schres.2010.12.015.

Go to publication

Marcel Romanos, Ann-Christine Ehlis, Christina G Baehne, Christian Jacob, Tobias J Renner, Astrid Storch, Wolfgang Briegel, Susanne Walitza, Klaus-Peter Lesch, Andreas J Fallgatter
Reduced NoGo-anteriorisation during continuous performance test in deletion syndrome 22q11.2.
Psychiatr Res 2010 Sep; 44(12):768-74. doi: 10.1016/j.jpsychires.2010.02.001

Got to publication

Contact

Portraitfoto von Univ. Prof. Dr. med. Marcel Romanos

Univ.-Prof. Dr. med.
Marcel Romanos

Klinikdirektor Kinder- und Jugendpsychiatrie

+49 931 201-78000

Contact

Telefon

Klinik und Poliklinik für KJPPP
Poliklinik und Privatambulanz
+49 931 201-78600

Zentrale Dienstnummer & Dienstarzt
+49 931 201-78888

Pforte Zentrum für Psychische Gesundheit
+49 931 201-76050

Sekretariat Tagesklinik
+49 931 250-8040

Direktion
Prof. Dr. Marcel Romanos
+49 931 201-78000

Stellvertretende Direktion
PD Dr. Regina Taurines
+49 931 201-78010

E-Mail

Direktion / Prof. Dr. Marcel Romanos
kj_office@ ukw.de 

PD Dr. Regina Taurines
taurines_r@ ukw.de

Fax

Direktion
+49 931 201-78040

Ambulanzsekretariat
+49 931 201-78620


Anschrift

Klinik und Poliklinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie des Universitätsklinikums | Margarete-Höppel-Platz 1 | 97080 Würzburg | Deutschland

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