Scientific Advisory Board
The Channeling Hope Foundation is fortunate to be advised by world experts in NALCN and related diseases—spanning neurobiology, neurophysiology, translational science, pharmacology, gene therapies, and clinical research and care —who share our vision of a world free from NALCN diseases.
The SAB provides guidance to:
- identify the scientific priorities and critical knowledge gaps to focus our fundraising and organizational efforts,
- to support further growth, collaboration, and advancements in research for NALCN and related diseases, and
- serve as pillars of scientific and medical information and resources for the community affected by NALNC-related disease.
Board Director:
Dr. Arnaud Monteil is a senior project leader of the “Ion channels in neuronal excitability and diseases” team at the Institut de Génomique Fonctionnelle and is part of the globally recognized Ion Channel Science and Therapeutics (ICST) Laboratory of Excellence. Dr. Monteil is a recognized expert in the field of ion channels and the author on several key publications on NALCN. He is the coordinator of the RestoreLeak consortium (2022-2025) funded through the ERA-NET NEURON 2021 call for Transnational Research Projects on Neurodevelopmental Disorders. This consortium brings together researchers and clinicians/physicians in close association with families of patients with the goal to decipher mechanisms involved in NALCN-related rare diseases and to propose innovative therapies for patients. Dr. Monteil was co-organizer of the 1st NALCN workshop held in Alicante, Spain in 2023.
Board Members:
Dr. Daniel Calame is a pediatric neurologist who specializes in neurodevelopmental disabilities. Through both clinical practice and research through the BCM Genomics Research Elucidates the Genetics of Rare disease (BCM-GREGoR) program, he is committed to find genetic answers and end the diagnostic odyssey for patients and families with rare diseases. Dr. Calame is also engaged in international collaborative efforts to better characterize the phenotypic spectrum and natural history of NALCN channelopathies like CLIFAHDD and IHPRF with the goal of improving anticipatory guidance, prognostication, and clinical trials readiness. Dr. Calame sees patients with NALCN channelopathies disorders in his neurogenetics clinic at Texas Children’s Hospital. He is also investigating drug repurposing for NALCN channelopathies.
Dr. Isabel del Pino Pariente holds the position of Research Scientist at the Spanish National Research Council. Leading a research group at the Institute of Neuroscience CSIC-UMH, she focuses on investigating the neurobiological foundations of neurodevelopmental diseases. As the principal investigator for the project titled “Function of the leak sodium channel NALCN in neurodevelopmental disorders,” her research is rooted in the idea that early identification of neurodevelopmental alterations can inform the design of treatments that alleviate symptoms as neurodevelopmental disorders progress, such as in the case of IHPRF1 and CLIFAHDD syndromes. The primary goal is to uncover the underlying neurobiological factors contributing to cognitive and motor deficits in animal models of IHPRF1 and CLIFAHDD.
Dr. Josiah Gerdts is a UCSF Neurologist and neuroscientist with expertise in neuronal and axonal degeneration, synthetic biology, and autoimmunity.
Dr. Antonio Gil-Nagel is Co-Head of the Department of Neurology and Director of the Epilepsy Program at Ruber International Hospital. He is a leader in the field of epilepsy care and research, especially in the diagnosis and identification of the epileptic focus, the selection of candidates for epilepsy surgery, genetic diagnosis and treatment of epileptic encephalopathies and development of new drugs. His work has focused especially on orphan epilepsies such as Dravet syndrome, Lennox-Gastaut syndrome, and cortical dysplasias, among other epilepsies. Dr. Gil-Nagel is a co-investigator in the EU-funded Restoreleak project to perform deep phenotyping of syndromes related to the NALCN and UNC80 genes. The aim of the project is to decipher the molecular, cellular and circuit mechanisms involved in this channelopathy and to develop innovative and safe treatment options for patients.
Dr. Brandon Holmes is a physician-scientist whose research resides at the intersection of neuroinflammation and neurodegeneration. He uses a cross-disciplinary approach involving iPSC models, functional genomics, proteomics, and protein engineering with the goal of developing novel diagnostic and therapeutic platforms for neurodegenerative diseases. He hopes to use his background in cell-based assay design and high-content screening to discover new treatments for CLIFAHDD that may bring comfort and cures to patients and their families.
Dr. Leszek Lisowski is a molecular biologist and a global vectorology expert. As the Head of the Translational Vectorology Research Unit (TVRU) at CMRI, he leads the development of bioengineered viral vectors for safe and effective delivery of a therapeutic cargo to specific cell types and tissues. He is an expert in viral vector manufacturing and is directly involved in building clinical vector manufacturing capability in Australia. In addition to his academic research interests, he is also directly involved in studying genetic disorders, development of preclinical models of disease as well as development, validation and translation of viral vector-based gene therapeutics for the treatment of serious genetic diseases in children and adults.
Dr. Stephen Pless is a biochemist and molecular biologist. His team at the University of Copenhagen works with various approaches, such as electrophysiology, fluorescence and chemical biology, to study the structure, function and pharmacology of ion channels and ion channel complexes, with a particular focus on the NALCN sodium leak channel. His lab was able to show that NALCN is only functional when it forms a complex with three other proteins, FAM155A, UNC79 and UNC80 (Chua et al, Science Advances, 2020). This breakthrough enabled the first detailed functional characterisation of NALCN and led collaborators to obtain a structure of the entire NALCN channelsome, along with mechanistic and pharmacological insight (Kschonsak et al, Nature, 2020 and 2022).
Dr. Dejian Ren is a Professor of Biology at the University of Pennsylvania. He trained in Physiology and Biophysics. His laboratory currently focuses on neuronal excitability, organelle physiology and neurodegenerative diseases.
Dr. Ren’s lab discovered the NALCN protein as a sodium leak channel in neurons. His lab also defined the function of two auxiliary subunits UNC80 and UNC79 in the channel complex in mammalian brains. In collaboration with clinical researchers, his lab uses animal models to characterize the impacts associated with genetic variations in the NALCN, UNC80 and UNC79 genes found in human patients.
Dr. Mei Zhen is a genetics and neurobiologist, and currently holds a Canada Research Chair in Brain and Behavior and a visiting professor of Physics at Harvard University. Combining genomics, electron microscopy, electrophysiology, and functional imaging, she leads an innovative research program to gain a systems-level understanding of how genetic mechanisms underlie neural circuit maturation during development. Her group works with multiple animal models and interacts closely with clinical scientists to study the genetic causes of rare neurological disorders. Specifically, they have discovered multiple components of the NALCN channelsome and identified the first case of CLIFAHDD, the neurological disorder caused by a gain-of-function (R1181Q) mutation that leads to increased NALCN channel activity.
