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Template letter for support: Show Your Stripes for Our Moon's Mission, Genetic Cures for Kids

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Share our mission:

The worldwide prevalence of SPG56 is <1/1,000,000, which means that less than 1 in 1M people have it around the world. Also, current research shows that it usually presents at birth or during early childhood, so these affected people are mostly children.
It is autosomal recessive, which means that both parents must have had a dysfunctional copy of the gene for the child to have the disease.
The CYP2U1 gene produces the protein CYP2U1, which is important in signaling pathways in the body. Signaling pathways are what control basic cell functions. So a mutation in the CYP2U1 gene that renders it dysfunctional will also affect the signaling pathways that keep the cells functioning properly. This is how the CYP2U1 mutation may cause the symptoms associated with SPG56. (Dysfunctional CYP2U1 gene ⟶ dysfunctional CYP2U1 protein ⟶ affected signaling pathways ⟶ cells don’t function properly ⟶ SPG56 symptoms)
The CYP2U1 gene can be found on chromosome 4q25. This means that it is somewhere on the bigger arm (shown in darker pink in example figure of a chromosome) of Chromosome #4.

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DONATE BY BANK TRANSFER TO GENETIC CURES FOR KIDS INC.

Commonwealth Bank Of Australia
SWIFT code: CTBAAU2S (Required only for International Transfers)
Account Name: Genetic Cures for Kids Inc.
BSB: 064-449
Account number: 1053 2492

International donors please note:
Australian accounts do not have IBANs. Instead, we use a BSB (bank, state, branch) identifier) and an account number.

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You can pick any of these ways to help and you will be directly sharing in this life saving mission – to cure SPG56 and save our daughter.

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Join our family’s foundation ‘Genetic Cures for Kids’ – it’s free, you’ll have access to all the news and events, plus your membership will help build our profile- hence building awareness of, and support for, people suffering from SPG 56.