Research for Rare - Research for rare diseases

Network on cognitive impairment disorders with defective chromatin (CHROMATIN-Net)
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.

Projekte
Kontakt
Coordinating investigator:

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/

Publications