DRN Cohesinopathies
German Reference Network for Cohesinopathies
German Reference Network for Cohesinopathies
The German Reference Network (DRN) for Intellectual Disability, Telemedicine, Autism, and Congenital Anomalies – Cohesinopathies Subgroup (dITHACA Cohesinopathies) is an association of specialized centers for rare diseases (ZSE) and other scientific and clinical institutions in healthcare and research. The network pools expertise on rare genetic diseases involving disorders of the cohesin complex (including Cornelia de Lange syndrome) and advocates for the interests of patients with cohesinopathies. These rare syndromic diseases are characterized by characteristic dysmorphia, developmental delays, and varying degrees of intellectual disability, which are attributable to molecular changes in the cohesin complex.
The ZSE Reference Center in Essen performs central coordination and support tasks within the network.
Register entry “Cohesin.eu / Cohesin.de”
As part of the German Reference Network for Intellectual Disability, Telemedicine, Autism, and Congenital Anomalies (dITHACA Cohesinopathies), a German-European registry for cohesinopathies is currently being developed.
The overarching goal of the registry is to establish a central database that will enable research into genetic, clinical, and therapeutic issues relating to cohesinopathies at the national and, in the long term, European level, thereby contributing to improved care for this patient group.
Cohesin.eu will systematically collect clinical and genetic data, symptoms, disease progression, and information on lifestyle habits and care concepts. The data obtained will enable detailed analyses of similarities and differences between individual cohesinopathies and of different genetic variants within the same syndrome or gene. Thanks to close links with scientific projects, these findings can be immediately processed and investigated in greater depth in cellular models.
The registry provides an essential basis for research into these rare diseases. At the same time, it supports the efficient transfer of new findings back into patient care. Close cooperation between patients, clinics, and research institutions promotes the development of future personalized therapy approaches with the aim of improving the quality of life of patients and their families.
Contact
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Send us an email or contact one of our participating centers directly.
DIAGNOSIS
We want to improve the diagnosis of people with cohesinopathies and improve care.
Diagnosis is made using state-of-the-art genome sequencing. The best-known representative of this growing group of cohesinopathies (CPs) is Cornelia de Lange syndrome (CdLS). The clinical manifestations are wide-ranging and show considerable variability. Characteristic facial features often occur, but these can overlap significantly between different cohesinopathies and have different genetic causes.
RESEARCH
Our goal is to advance research into cohesinopathies and facilitate the transfer of knowledge. To this end, our network uses genetic analyses to identify and assign specific gene variants to clinical characteristics and disease progression. We also focus on deciphering the molecular basis for structural changes and disorders in the cohesin complex. In order to optimize the scientific evaluation of collected data on disease progression, gene variants, and therapies, we are working closely with international research networks.
COOPERATION
An important part of our network is the collaboration between scientists and physicians, as well as patient organizations and self-help groups. To this end, we are working on cross-location studies and care concepts. Together, we want to create a structure that provides those affected with support, information, and optimal medical care.
Events
Deutschlandtreffen Arbeitskreis Cornelia de Lange Syndrom
2024 in Löwenstein
Nationalen Konferenz zu Seltenen Erkrankungen – NAKSE 2025
18.-19. Sept. 2025, Berlin Fachlicher Austausch auf der Nationalen Konferenz zu Seltenen Erkrankungen. Eine Konferenz der Allianz Chronischer Seltener Erkrankungen (ACHSE) e. V. in Kooperation mit den Zentren für Seltene Erkrankungen (ZSE)
Verleihung Eva Luise Köhler Forschungspreis für Seltene Erkrankungen
20. Juni 2025, Berlin
ERN ITHACA Board Meeting
03.-05. Dez. 2025, Bergen, Norwegen