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ZC4H2-Associated Rare Disorders (ZARD) Pilot Grant Program

Grants to USA, Canada, and International Scientists for Research
Related to Rare Neuromuscular and Neurodevelopmental Disorders

Agency Type:

Foundation / Corporation

Funding Source:

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University of Pennsylvania School of Medicine - Orphan Disease Center (ODC) and ZC4H2 Deficiency Research Foundation

LOI Date:


Deadline Date:

12/05/19 5:00 PM EST


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Grants of $50,000 to USA, Canada, and International scientists at academic institutions and nonprofit foundations/institutions for research related to rare neuromuscular and neurodevelopmental disorders. Applicants are required to submit a letter of intent in advance of the deadline.

Pathogenic mutations in the zinc finger C4H2-type gene (ZC4H2) are associated with a neurodevelopmental and neuromuscular disorder often diagnosed as a form of arthrogryposis multiplex congenita. ZC4H2 is a protein-coding gene located on the X-chromosome and the mechanism by which ZC4H2 mutations lead to disease remain unclear. Due to the key clinical features of both males and females with these mutations there is a growing recognition of this condition as a unique disorder that should be clinically recognized as ZARD.

The limited research published to date indicates that ZC4H2 is expressed at various developmental stages and is subject to X-inactivation in females. Inheritance of one ZC4H2 mutant allele (or de novo mutation) in males results in full expression of the disease, manifesting with severe impairment and developmental delays. Recent research has found that due to variation in X-inactivation or the presence of significant mutations in ZC4H2 (such as full deletions), females may also present with a form of the disease, albeit less severe than male ZC4H2 patients. It is believed that the pathogenic variants of ZC4H2 may result in impairment of the central and peripheral nervous system through the impairment of neurologic development.

ODC is seeking grant applications that progress the understanding of ZC4H2 basic biology or development of treatments and/or a cure for ZARD. While the RFA is broad in scope, priority will be given to grants that cover the following areas:

  1. Unbiased approaches to discovering the protein function of ZC4H2, including, but not limited to, rescue, modifier, or synthetic lethal screens in genetically tractable model organisms.
  2. Molecular characterization of ZC4H2 and the effect of mutations on molecular and protein function using in vitro and in in vivo models (mouse and human where possible):
    • Identification and characterization of naturally occurring transcripts, including splice isoforms
    • Spatio-temporal expression patterns of wildtype ZC4H2 expression at RNA and protein level (i.e. developmental time course and tissue- and cell type-specific expression of RNA and protein; cellular sub-localization of protein)
  3. Discovery and validation of druggable targets or pathways for ZC4H2 treatment. Pilot data should be already established. This grant would focus on validating the approach in a translatable experiment with clear Go/ No Go experiments. 

Allowable direct costs can be found at:

GrantWatch ID#:

GrantWatch ID#: 187165

Number of Grants:


Estimated Size of Grant:

Grants are $50,000.

Term of Contract:

The ZARD Pilot Grant Program provides a one‐year grant.

Additional Eligibility Criteria:

All individuals holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA.

Unallowable Costs:
- Consultant costs
- Tuition
- Professional membership dues
- Equipment >$5,000
- General office supplies, institutional administrative charges (e.g., telephone, other electronic communication, IT network, etc.)
- Pre‐award charges
- Any other expenses not directly related to the project

Pre-Application Information:

- LOI Due Date: Monday, November 4, 2019 by 8pm (EST).
- Proposal Due Date: Thursday, December 5, 2019 no later than 5pm (EST) - NOTE: Full Application is by invitation only after review of Pre-Application.

Awardees will be limited to 1 NCE request for their award.

Funds will be issued through a cost reimbursement mechanism executed by purchase order from the University of Pennsylvania. Details of invoicing schedules and reporting requirements will be made available upon award.

Contact Information:

Before starting your grant application, please review the funding source's website listed below for updates/changes/addendums/conferences/LOIs.

Submit LOI via:

For any scientific inquiries regarding this grant please email:
Sheridan Carrington, PhD

For additional information, please contact:
Samantha Charleston

University of Pennsylvania
TRL Suite 1200
125 South 31st Street
Philadelphia PA 19104

URL for Full Text (RFP):

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