Project: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain
| Acronym | ENISNIP (Reference Number: EJPRD19-189) |
| Project Topic | Patients with monogenic pain-insensitivity disorders do not respond to painful stimuli and sustain repeated trauma and mutilations with potentially fatal complications, defining a high need for effective prevention and therapy. Limited awareness of these conditions, small patient series in individual centres, lack of standardized phenotype information, low diagnostic yield of genetic testing, and only partial recognition of disease mechanisms have been largely precluding clinical research. ENISNIP, a European network of clinicians, geneticists and basic scientists will overcome these hurdles and (1) ensure rapid diagnosis by raising awareness for pain-insensitivity disorders, (2) gather harmonized, high quality cross-sectional data by compiling national patient cohorts, (3) advance genetic diagnosis and gene discovery through state-of-the-art genomics and innovative variant filtering procedures integrating additional omics levels and disease modelling in patient-specific cells, and (4) track disease mechanisms and relevant phenotypic outcomes in genetically modified mice. ENISNIP will bring accurate genetic diagnosis and counselling to individuals with pain-insensitivity disorders and support establishing standards of diagnosis and care. We envision delivering meaningfully sized, well-phenotyped and -genotyped patient cohorts, new insights into the molecular basis of pain-insensitivity disorders and new cellular and animal disease models, paving the way for translational strategies. |
| Network | EJP RD |
| Call | 1st EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2019) |
Project partner
| Number | Name | Role | Country |
|---|---|---|---|
| 1 | RWTH Aachen University Hospital | Coordinator | Germany |
| 2 | University Hospital, LMU Munich | Partner | Germany |
| 3 | Charles University in Prague | Partner | Czech Republic |
| 4 | Medical University of Vienna | Partner | Austria |
| 5 | University Hospital Zurich | Partner | Switzerland |
| 6 | Karolinska Institutet | Partner | Sweden |
| 7 | Istanbul University Medical School | Partner | Türkiye |