Foundation / Corporation
University of Pennsylvania School of Medicine - Orphan Disease Center (ODC) and ZC4H2 Deficiency Research Foundation
12/05/19 5:00 PM EST
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:
Allowable direct costs can be found at: http://orphandiseasecenter.med.upenn.edu/uploads/attachments/ck1gtqh9u46fe5ztuwxds0h48-rfa-draft.pdf#page=3.
GrantWatch ID#: 187165
Grants are $50,000.
The ZARD Pilot Grant Program provides a one‐year grant.
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:
University of Pennsylvania
TRL Suite 1200
125 South 31st Street
Philadelphia PA 19104
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