Awarded Grants

Awarded Grants

Jumpstart, Grant Assistance Program, Bow Foundation, 2023 Million Dollar Bike Ride Jumpstart, Grant Assistance Program, Bow Foundation, 2023 Million Dollar Bike Ride

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

Read More
Jumpstart, Grant Assistance Program, Bow Foundation, 2023 Million Dollar Bike Ride Jumpstart, Grant Assistance Program, Bow Foundation, 2023 Million Dollar Bike Ride

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.

Read More
Jumpstart, Grant Assistance Program, Bow Foundation, 2023 Million Dollar Bike Ride Jumpstart, Grant Assistance Program, Bow Foundation, 2023 Million Dollar Bike Ride

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.

Read More
CDKL5, 2023, CDKL5 Pilot Grant Programme Million Dollar Bike Ride CDKL5, 2023, CDKL5 Pilot Grant Programme Million Dollar Bike Ride

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

Read More
Jumpstart, Grant Assistance Program, 2023, ADLD Million Dollar Bike Ride Jumpstart, Grant Assistance Program, 2023, ADLD Million Dollar Bike Ride

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.

Read More
Jumpstart, Grant Assistance Program, 2023, ADLD Million Dollar Bike Ride Jumpstart, Grant Assistance Program, 2023, ADLD Million Dollar Bike Ride

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.  

Read More
Jumpstart, Grant Assistance Program, 2023, ADLD Million Dollar Bike Ride Jumpstart, Grant Assistance Program, 2023, ADLD Million Dollar Bike Ride

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.

Read More