ENISNIP is a network consisting of scientists, clinicians and patient advocacy organizations specialized on HSAN/CIP.
Our main goals are:
We aim to increase the awareness of HSAN/CIP among the general population as well as medical and scientific professionals. Due to the rarity of the disease, patients still go through an odyssey of medical appointments before they find out the reason for their symptoms. This is a process full of suffering, not only for the patients but also for family and friends, which we would like to shorten.
The main problem that medical professionals and scientists face when dealing with rare diseases is the small number of patients who are treated all around the world. Thus, there is no standardized approach to diagnose or treat HSAN/CIP. Also, the documentation of patients’ symptoms varies massively. This hampers the treatment of patients and the research on causes and potential therapies in the long term. By networking between clinicians and scientists, we aim to ensure that both clinical and genetic data are collected in a standardized manner, e.g., by using the same clinical questionnaires and similar bioinformatics pipelines.
Identify novel disease-causing mechanisms
We want to collect the standardized data in a database to which scientists and clinicians from other sites will also have access, certainly under strict data protection. In this way, the group size of patients with standardized genetic and clinical data will be increased, enhancing the probability of detecting thus far unknown disease-causing mechanisms. The better understanding of the disease can then help to improve diagnosis and treatment of patients with HSAN/CIP, which we see as our overall goal.