European Network on Inherited Sensory Neuropathies and Insensitivity to Pain.
Funded by the European Joint Programme on Rare Diseases EJP RD
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. Heritable disorders with pain loss are classified as Congenital Insensitivity to Pain (CIP) or Hereditary Sensory and Autonomic Neuropathy (HSAN). Limited awareness of these rare conditions, small patient cohorts 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 aims to (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, disease modelling in patient-specific cells and regular reevaluation of variants’ impact on disease, and (4) track disease mechanisms and relevant phenotypic outcomes in model systems.
ENISNIP aims to bring accurate genetic diagnosis and counselling to individuals with pain-insensitivity disorders and support establishing standards of diagnosis and care. We envision to paving the way for preclinical experimental treatment trials and clinical research.
ENISNIP is a European network of clinicians, geneticists and basic scientists combining expertise in diagnosis, genetic counselling and clinical care of patients with inherited peripheral neuropathies, particularly CIP/HSAN patients.
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