Docteur Arnaud Monteil ©Muriel Asari
The RestoreLeak project has just been awarded by the European call for Transnational Research Projects on Neurodevelopmental Disorders launched by the ERA-NET NEURON.
RestoreLeak focuses on 2 severe neurodevelopmental disorders linked to mutations in the NALCN gene, a key player in neuronal and endocrine cell functions: the IHPRF1 and CLIFAHDD syndromes. Both syndromes display onset early in infancy and lead to premature death without any therapeutic solution currently available.
The research consortium is led by Dr Arnaud Monteil (Institute for Functional Genomics, Montpellier, France), a recognized expert in the field of ion channels and a worldwide leader in NALCN researches. It gathers scientists and clinicians with complementary expertises, namely Dr Antonio Gil-Nagel Rein head of the Epilepsy Program at the Neurology Service of the Ruber International Hospital (Madrid, Spain) and an international leader in the field of epilepsy care; Dr Isabel Del Pino Pariente (Centro de Investigación Príncipe Felipe, Valencia, Spain) a developmental neurobiologist with strong expertise in neuronal circuit dysfunctions, Dr Stephan Pless (University of Copenhagen, Denmark), a recognized researcher in the field of ion channels with strong expertise in structure function and pharmacological studies; and Dr Leszek Lisowski (Military Institute of Medicine, Warsaw, Poland and Children’s Medical Research Institute, Sidney, Australia) a leader in the development, manufacturing and clinical implementation of vector-based gene therapies. The consortium also works in close association with the Libellas Foundation, a patient advocacy group.
The two main goals of RestoreLeak are to understand the molecular basis linking NALCN variants to the IHPRF1 and CLIFAHDD syndromes, and to generate and validate proof-of-concept studies for the development of innovative therapeutic interventions to cure these syndromes.
