22 November 2021
This consortium among several institutions aiming at accelerating the development of effective therapies for the ultrarare CLIFAHDD and IHPRF Syndromes, (NALCN/UNC80 gene mutations)-
The RestoreLeak consortium, led by Dr. Arnaud Monteil (Institute for Functional Genomics, Montpellier, France), was recently created to bring together scientists and clinicians, namely Dr. Antonio Gil-Nagel Rein (Ruber International Hospital, Madrid, Spain), Dr. Isabel Del Pino Pariente (Centro de Investigación Príncipe Felipe, Valencia, Spain), Dr. Stephan Pless (University of Copenhagen, Denmark) and Dr. Leszek Lisowski (Military Institute of Medicine, Warsaw, Poland, and Children’s Medical Research Institute, Sidney, Australia).
The two major goals of the consortium are (1) to understand the molecular basis linking NALCN and UNC80 gene variants to pathological states such as IHPRF and CLIFAHDD syndromes, and (2) to generate proof-of-concept foundational discoveries towards the development of new therapeutic interventions.
Fundacion Libellas is closely associated to the consortium and is very proud to announce that the RestoreLeak consortium recently obtained a dedicated 3-year funding from the European Union through the 2021 call of the ERA-NET NEURON program on “Neurodevelopmental Disorders” (https://www.neuron-eranet.eu/).
This success paves the way to the identification of treatments for patients through a synergistic partnership between researchers, clinicians, and patient families.