Awarded Grants

Awarded Grants

MDBR, ZC4H2 Million Dollar Bike Ride MDBR, ZC4H2 Million Dollar Bike Ride

Neuromuscular Activation of Muscle in Children with the ZC4H2 Mutation

Richard Lieber

Shirley Ryan AbilityLab

$61,815.00

Awardee: Richard Lieber

Institution: Shirley Ryan AbilityLab

Grant Amount: $61,815.00

Funding Period: February 1, 2024 - January 31, 2025


Summary:

Our research will determine whether the weakness experienced by children with the ZC4H2 mutation is due to their inability to voluntarily recruit muscle groups or weakness in the muscle itself. This will be accomplished by measuring both mechanical and electrical activity of the major flexors and extensors in the body. In this way, we can focus development on therapies related to the actual functional problem in these children.

Read More
MDBR, ZC4H2 Million Dollar Bike Ride MDBR, ZC4H2 Million Dollar Bike Ride

Targeted reactivation of ZC4H2 using miniature Cas editors

Julian Halmai

University of California, Davis

$46,846.00

Awardee: Julian Halmai

Institution: University of California, Davis

Grant Amount: $46,846.00

Funding Period: February 1, 2023 - January 31, 2024


Summary:

The overall goal of this proposal is to develop CRISPR therapeutics for ZC4H2 Associated Rare Disorders. If successful, reactivation of the X-linked ZC4H2 could result in rescue of disease associated phenotypes in female patients affected by the disorder. This proposal utilizes AAV ready miniature epigenome editors that have great potential to improve the field of extant CRISPR therapeutics.

Read More
MDBR, ZC4H2 Million Dollar Bike Ride MDBR, ZC4H2 Million Dollar Bike Ride

Structural and Functional Investigation of the ZC4H2 Protein

Fahad Ali

Mohammed Bin Rashid University Of Medicine and Health Sciences

$46,846.00

Awardee: Fahad Ali

Institution: Mohammed Bin Rashid University Of Medicine and Health Sciences

Grant Amount: $46,846.00

Funding Period: February 1, 2023 - January 31, 2024


Summary:

ZC4H2 Associated Rare Disorders (ZARD) is a rare genetic disorder that impacts the nervous system. It is caused by mutations within the ZC4H2 gene. ZC4H2 codes for a protein that, as of yet, has not been studied and is of unknown function. In this project, we aim to investigate this function using a combination of cellular and molecular approaches to guide future therapeutic development.

Read More
Jumpstart, 2021 Million Dollar Bike Ride Jumpstart, 2021 Million Dollar Bike Ride

Nucleic acid binding by ZC4H2

Daniel Dominguez, PhD

UNC at Chapel Hill

$50,000

Awardee: Daniel Dominguez, PhD

Institution: UNC at Chapel Hill

Award Amount: $50,000

Funding Period: January 1, 2021 - December 31, 2021


Summary:

Mutations or genetic rearrangements in the protein, ZC4H2, cause a group of X-linked neurodevelopmental disorders for which there are no treatments. While the importance of this protein is clear, the specific function of ZC4H2 is still unknown. ZC4H2 is predicted to be a zinc-finger protein. We hypothesize that like many other zinc-finger proteins, ZC4H2 directly binds DNA or RNA, and functions to regulate gene expression programs required for normal development. Our goal is to determine if ZC4H2 interacts with nucleic acids and to identify specific genes and/or gene expression pathways that become dysfunctional when ZC4H2 is mutated. Patients suffering from ZC4H2-associated rare disorders have little recourse; understanding the biological function of this protein is a critical and necessary first step to uncover potential therapeutic approaches. 

Read More