Kornelia Ellwanger

Jun 23, 2024 | nature.com | Kornelia Ellwanger |Julie Brill |Elke de Boer |Amanda G. Lobato |Michela Ori |Ashleigh E. Schaffer | +5 more

In biomedical research, particularly for rare diseases (RDs), there is a critical need for model organisms to unravel the mechanistic basis of diseases, perform biomarker studies and develop potential therapeutic interventions. Within Solve-RD, an EU-funded research project with the aim of solving large numbers of previously unsolved RDs, the European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established.

Nov 5, 2023 | nature.com | Kornelia Ellwanger |Peter Robinson |Holm Graessner |Sergi Beltran |David Lagorce |Caterina Lucano

AbstractRare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced in obtaining a correct and timely diagnosis. According to Orphanet, 72.5% of RD have a genetic origin although 35% of them do not yet have an identified causative gene. A significant proportion of patients suspected to have a genetic RD receive an inconclusive exome/genome sequencing.

Jul 24, 2023 | febs.onlinelibrary.wiley.com | Lucy Hezinger |Sarah Bauer |Kornelia Ellwanger |Alban Piotrowsky

NOD1 and HAX-1 affect cell migration independently of RIPK2 and NF-κB activation NOD1 overexpression in our HeLa NOD1-eGFP cells induces NF-κB activation [[42]] via RIPK2 and most NOD1-mediated effects require RIPK2 signalling [[43]]. However, also RIPK2 independent signalling of NOD1 has been described, such as for the induction of autophagy in some cells [[44]].