Awarded Grants
Awarded Grants
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.
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.
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.
Deciphering the structural consequences of ZC4H2 germline rare variants
Prof. Michal Linial
The Hebrew University of Jerusalem
$50,000
Awardee: Prof. Michal Linial
Institution: The Hebrew University of Jerusalem
Award Amount: $50,000
Funding Period : January 1, 2021 - December 31, 2021
Studies on ZC4H2 to help better understand the pathophysiology of ZARD
Vera Kalscheuer, PhD
Max Planck Institute for Molecular Genetics
$50,000
Awardee: Vera Kalscheuer, PhD
Insitution: Max Planck Institute for Molecular Genetics
Award Amount: $50,000
Funding Period: January 1, 2021 - December 31, 2021
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.