CHROMATIN-Net - Network on cognitive impairment disorders with defective chromatin
CHROMATIN-Net explores phenotypic and molecular overlap of various rare syndromes associated with abnormal chromatin dynamics. These disorders include Coffin-Siris, Cornelia de Lange, and Nicolaides-Baraitser syndrome which show an overlapping phenotypic presentation with a broad spectrum of dysmorphic features and variable degrees of cognitive impairment.
To better characterise this overlap, the network will perform harmonised genotype-phenotype correlation, analyse mosaic status and parent-of-origin effects in patients and identify and characterize new genes and phenotypes. In order to investigate possibly shared molecular processes and pathways it will generate epigenomic profiles and investigate changes in gene expression in various tissues and cell lines and also from cells from patient material.
Due to the highly complementary expertise of the different project co-ordinators, the network expects to gain new insights into genotypes, phenotypes and molecular alterations of these clinically related disorders, which will improve genetic counselling of affected families and establish a basis for future therapeutic approaches.
Projects- Coordination unit of the consortium (Prof. Dr. med. André Reis, Friedrich-Alexander-University Erlangen-Nürnberg)
- Dissecting the molecular mechanisms of cognitive disorders with mutations in the SWI/SNF complex (Prof. Dr. med. André Reis, Friedrich-Alexander-Universität Erlangen-Nürnberg)
- Intellectual disability (ID) and syndromic entities associated with mutations in the SWI/SNF complex (Prof. Dr. med. Dagmar Wieczorek, Heinrich Heine University Düsseldorf )
- The nucleosome landscape of Coffin-Siris and Nicolaides-Baraitser syndrome patients with mutations in the SWI/SNF complex (Dr. med. Nuria Brämswig, Prof. Dr. Bernhard Horsthemke, University of Duisburg-Essen)
- Functional and phenotypical interaction of cohesin with SWI/SNF-associated disease (Prof. Dr. rer. nat. Frank J. Kaiser, University of Lübeck)
- Whole Genome Sequencing and Analysis (PD Dr. med. Tim M Strom, Helmholtz Centre Munich )
- Establishing human disease specific cortical neurons (Prof. Dr. med. Beate Winner, Friedrich-Alexander-Universität Erlangen-Nürnberg)
Prof. Dr. med. André Reis
Humangenetisches Institut
Friedrich-Alexander-Universität Erlangen-Nürnberg
Schwabachanlage 10
91054 Erlangen
Tel: +49-9131-85 22318
Fax: +49-9131-85 23232
E-Mail: andre.reis@uk-erlangen.de
Internet: https://www.chromatin-net.de/