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Orphan Disease Center -- ZC4H2-Associated Rare Disorders (ZARD) Pilot Grant Program
The ODC ZC4H2-Associated Rare Disorders (ZARD) Pilot Grant Program provides a one‐year grant to support research related to ZC4H2-associated rare disorders. Up to three awards will be granted at $50,000 each.
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 Xchromosome 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.
We are seeking grant applications that progress the understanding of ZC4H2 basic biology or development of treatments and/or a cure for ZARD.
Deadline for LOI: Nov. 4, 2019