Awarded Grants
Awarded Grants
Development of a validated and patient-specific GNAO1 model for screening and testing of therapeutics
Harald Mikkers
Leiden University Medical Center, Netherlands
$100,000
Awardee: Harald Mikkers
Institution: Leiden University Medical Center, Netherlands
Grant Amount: $100,000
Funding Period: September 15, 2023 - September 14, 2024
Summary: This project will advance and improve a state-of-the-art personalized medicine tool for GNAO1. He will use funding from the Bow Foundation to create a validated stem cell GNAO1 model that opens the doors to various drug screening efforts. The work will investigate how GNAO1 impacts neurons and evaluate the suitability of the iPSC-based model for testing of therapeutics and drug responses
Establishing a Krabbe Disease Newborn Screening Biobank and Natural History Database Platform
Laura Adang
Children's Hospital of Philadelphia
$150,000
Awardee: Laura Adang
Institution: Children's Hospital of Philadelphia
Grant Amount: $150,000
Funding Period: August 1, 2023 - July 31, 2024
Testing mechanisms and intervention strategies in GNAO1 dystonia
Kirill Martemyanov
University of Florida Scripps Institute for Biomedical Innovation and Technology
$100,000
Awardee: Kirill Martemyanov
Institution: University of Florida Scripps Institute for Biomedical Innovation and Technology
Grant Amount: $100,000
Funding Period: August 1, 2023 - July 31, 2024
Summary: This project will help advance scientific understanding about the mechanisms of dystonia. Many GNAO1 patients suffer from dystonia, commonly known as involuntary muscle movements. Bow Foundation funding will allow Dr. Martemyanov to use a mouse model to shine light on the impact of GNAO1 on dystonia and brain signals while also testing possible treatment strategies.
Personalized Anti-Sense Oligonucleotide Therapy in a Patient with GNAO1 Mutation
Jennifer Friedman
University of California San Diego and Rady Children’s Hospital
$100,000
Awardee: Jennifer Friedman
Institution: University of California San Diego and Rady Children’s Hospital
Grant Amount: $100,000
Funding Period: August 1, 2034 - July 31, 2024
Summary: Dr. Friedman partnered with the n-Lorem Foundation to support the administration of an experimental antisense oligonucleotide (ASO) medicine that targets the GNAO1 gene. Funding from the Bow Foundation will help Dr. Friedman collect and evaluate the clinical observations of this cutting-edge treatment, including changes in baseline over time and data from predetermined outcome measures. This preclinical work will allow the research team to determine if ASO treatments for other GNAO1 patients are a viable approach for other patients.
Assessment of the therapeutic potential of TATk-hCDKL5 isoform 1 and 2 produced in recombinant Antarctic Pseudoalteromonas haloplanktis TAC125
Maria Luisa Tutino, PhD
University Federico II of Naples
$149,985.00
Awardee: Maria Luisa Tutino, PhD
Institution: University Federico II of Naples
Award Amount: $149,985.00
Funding Period: May 1, 2023 - April 31, 2024
Therapeutic potential of Ca2.3 inhibitors in CDD mouse and human models
Marisol Sampedro Castanedo, PhD
Francis Crick Institute
$149,942.00
Awardee: Marisol Sampedro Castanedo, PhD
Institution: Francis Crick Institute
Award Amount: $149,942.00
Funding Period: May 1, 2023 - April 31, 2024
Clinical trial for antisense oligonucleotide therapy in a patient with ADLD
Margot Cousin
Mayo Clinic
$50,000
Awardee: Margot Cousin
Institution: Mayo Clinic
Grant Amount: $50,000
Funding Period: May 1, 2023 - April 30, 2024
Summary: The long-term research goal is to advance disruptive innovation to transform care for individuals with ADLD through the development of a translational therapeutics program using team science. We hypothesize that a gapmer ASO to knockdown LMNB1 expression will be safe and well tolerated and that it will ultimately improve clinical outcomes in patients with ADLD. The objectives in this application are to develop and execute a first-in-human clinical trial to determine safety, tolerability, and potential clinical benefit of an LMNB1-targeted ASO therapy in a single patient with ADLD.
Development of 3D ADLD microfiber and organoid models for studying biomarkers and drug testing
Stefano Ratti
University of Bologna
$50,000
Awardee: Stefano Ratti
Institution: University of Bologna
Grant Amount: $50,000
Funding Period: May 1, 2023 - April 30, 2024
Summary: The project aims at developing reliable ADLD microfiber and organoid models for investigating
biomarkers and for drug testing. The novel models to be developed with this substantial 1 -year funding include 3D microfiber co-cultures of astrocytes and oligodendrocyte precursors (OPCs) and brain organoids. These models will be created from the fibroblasts of patients with the LMNB1 gene duplication and deletion phenotypes and healthy donors.
Analyzing CNS cell type specific transcriptomics in ADLD
Quasar Padiath
University of Pittsburgh
$50,000
Awardee: Quasar Padiath
Institution: University of Pittsburgh
Grant Amount: $50,000
Funding Period: May 1, 2023 - April 30, 2024
Summary: In this proposal, ADLD brain tissue samples will be utilized to carry out both bulk and
CNS cell type specific transcriptomics (RNA Seq analysis). Such an analysis will identify pathways there are perturbed as a result of lamin B1 overexpression and interrogate lamin B1 overexpression across different CNS cell types. These studies will help identify pathways contributing to the demyelination phenotype that may serve as potential therapeutic targets. In addition, cell type specific analysis can identify cells that are targeted for lamin B1 overexpression and cell type specific pathways that are perturbed providing critical insights into which cell types are responsible for the disease process.
New Drosophila models of CDD
Maximo Ibo Galindo
Centro de Investigación Príncipe Felipe
$148,950.00
Awardee: Maximo Ibo Galindo, PhD
Institution: Centro de Investigación Príncipe Felipe
Award Amount: $148,950.00
Funding Period: May 1, 2023 - April 31, 2024