Awarded Grants
Awarded Grants
Evaluation of a therapeutic potential of disulfiram for its repositioning against encephalopathies caused by GNAO1 mutations
Vladimir Katanaev
University of Geneva, Faculty of Medicine
$100,000
Awardee: Vladimir Katanaev
Institution: University of Geneva, Faculty of Medicine
Grant Amount: $100,000
Funding Period: January 1, 2026 - December 31, 2027
Summary: This project investigates disulfiram, a repositioned FDA-approved drug, for GNAO1 encephalopathies using biochemical, cellular, and animal model studies to evaluate its efficacy and safety in treating movement disorders and seizures.
DEVELOPMENT OF PHARMACOLOGICAL CHAPERONE FOR FUNCTIONAL RESCUE OF GalphaO MUTATIONS INVOLVED IN ENCEPHALOPATHY AND MOVEMENT DISORDERS.
Patrick M. Giguère
University of Ottawa
$100,000
Awardee: Patrick M. Giguère
Institution: University of Ottawa
Grant Amount: $100,000
Funding Period: September 1, 2025 - August 31, 2026
Summary: Employing machine learning, computational modeling, and biochemical assays, this study focuses on identifying small-molecule chaperones to stabilize and restore mutant Gao protein function, offering a promising disease-modifying treatment for movement disorders and epilepsy.
Pilot clinical trial to assess efficacy of Caffeine Citrate for controlling GNAO1-related dyskinetic crises
Serena Galosi
Sapienza University, Rome
$100,000
Awardee: Serena Galosi
Institution: Sapienza University, Rome
Grant Amount: $100,000
Funding Period: September 1, 2025 - August 31, 2026
Summary: A collaborative team of GNAO1 researchers, investigating caffeine citrate’s ability to control GNAO1-related dyskinetic crises, this study combines preclinical research in animal models with a phase 2 clinical trial to provide scientific evidence for caffeine citrate as a first-line treatment option.
GNAO1-related epilepsy: genotype-phenotype correlations
Erika Axeen
University of Virginia
$40,000
Awardee: Erika Axeen
Institution: University of Virginia
Grant Amount: $40,000
Funding Period: August 1, 2025 - July 31, 2026
Summary: This study leverages a clinician-validated phenotype database to improve diagnostic accuracy, identify genotype-phenotype correlations, and refine personalized therapeutic strategies for GNAO1 epilepsy patients.
Pre-clinical development of a CRISPR-mediated gene therapy for GNAO1 Encephalopathy using patient stem cells and a mouse model
Blair Leavitt
University of British Columbia
$100,000
Awardee: Blair Leavitt
Institution: University of British Columbia
Grant Amount: $100,000
Funding Period: August 1, 2025 - July 31, 2026
Summary: Using patient-derived stem cells and a specialized mouse model, this research aims to develop a targeted correction for the R209H mutation. Lipid nanoparticle (LNP) technology will refine gene-editing delivery methods for clinical applications.
Development of second generation AAV gene therapy for GNAO1 deficiency
Miguel Sena-Esteves
University of Massachusetts
$100,000
Awardee: Miguel Sena-Esteves
Institution: University of Massachusetts
Grant Amount: $100,000
Funding Period: August 1, 2025 - July 31, 2026
Summary: This study utilizes gene silencing and replacement strategies with the innovative BI-hTFR1 capsid to enable efficient brain-wide gene delivery, paving the way for future clinical trials in GNAO1 therapy.
Regulation of CDKL5 Function by Type I Interferons"
Josephine Thinwa, PhD
UT Southwestern Medical Center, USA
$150,000
Awardee: Josephine Thinwa, PhD
Institution: UT Southwestern Medical Center, USA
Award Amount: $150,000
Funding Period: May 1, 2025 - April 31, 2026
Development of a tau hyperphosphorylation assay in CDKL5 deficiency disorder iPSC-derived neurons
Jedd Hubbs, PhD
Boston Children's Hospital, USA
$149,050
Awardee: Jedd Hubbs, PhD
Institution: Boston Children's Hospital, USA
Award Amount: $149,050
Funding Period: May 1, 2025 - April 31, 2026
Exploiting microRNAs to disclose novel pathophysiological mechanisms, biomarkers and therapeutic approaches for CDKL5 deficiency disorder
Maurizio Giustetto, PhD
University of Torino, Italy
$134,300
Awardee: Maurizio Giustetto, PhD
Institution: University of Torino, Italy
Award Amount: $134,300
Funding Period: May 1, 2025 - April 31, 2026
Preclinical Investigations Of Proteasome and Lysosome Inhibitors In CDKL5 Deficient Mice"
James Eubanks, PhD
University Health Network - Krembil Research Institute, Canada
$147,896
Awardee: James Eubanks, PhD
Institution: University Health Network - Krembil Research Institute, Canada
Award Amount: $147,896.00
Funding Period: May 1, 2025 - April 31, 2026
An Evaluation of Gene Modification Strategies for Bloom Syndrome
Caroline Kuo
University of California, Los Angeles
$50,000
Awardee: Caroline Kuo
Institution: University of California, Los Angeles
Awarded: $50,000
Funding Period: April 1, 2025 – March 31, 2026
Summary: To date, no studies have assessed the feasibility of gene modification as a potential treatment for Bloom syndrome. This project outlines specific aims that include proof-of-concept experiments essential for evaluating the viability of gene therapy as a therapeutic option for this condition
The Somatic Mutational Landscape Of Blm-Deficient Tumors: Finding Clues for Future Therapeutic Opportunities
Richarda de Voer
Radboud University Medical Center (Stichting Radboud Fonds)
$150,000
Awardee: Richarda de Voer
Institution: Radboud University Medical Center (Stichting Radboud Fonds)
Awarded: $150,000
Funding Period: April 1, 2025 – March 31, 2027
Summary: Despite cancer surveillance strategies >80% of individuals with Bloom syndrome (BSyn) will have developed a malignancy by the age of 40 years. Treatment of malignancies in individuals with BS is still mostly based on standard-of-care treatments. With this proposal we aim to unravel the (mutational) mechanisms responsible for tumor initiation and progression in individuals with BSyn. We expect to gain insights into the processes relevant for tumor development in individuals with BSyn, leading to clues for future therapeutic opportunities. We will repurpose archived tumors from individuals with BSyn to:
1. Perform whole-exome or whole-genome sequencing to determine the somatic single base and small indel mutation landscape, investigate mutational signatures of defective DNA repair, mutated driver genes and identify potential signs of homologous recombination deficiency (HRD);
2. Explore the immune landscape of tumors using multiplex immunohistochemistry.
Novel Approaches to Cancer Surveillance in Bloom Syndrome
Vivian Chang
University of California, Los Angeles
$150,000
Awardee: Vivian Chang
Institution: University of California, Los Angeles
Awarded: $150,000
Funding Period: April 1, 2025 – March 31, 2027
Summary: There is a general lack of data on effective cancer surveillance in most rare cancer predisposition disorders and this remains a challenge for patients with Bloom syndrome as well. A landmark study of patients with a different rare cancer predisposition disorder known as Li-Fraumeni Syndrome caused by germline TP53 variants showed that biochemical and imaging surveillance is feasible and associated with improved long-term survival. Standard cancer surveillance approaches though have limitations, including expense and invasiveness, leading to decreased compliance. Emerging technologies that enable longitudinal “liquid biopsies” have shown significant promise to detect cancer through peripheral blood sampling. The long-term goal of this project is to establish an international collaboration with sharing of biospecimens and data across borders in order to develop, validate, and test effectiveness of novel, minimally invasive cancer surveillance methods.