HI, I AM

EMMA!

WHO IS EMMA?

A 3-year-old girl who was born with a very rare mutation in the little-known gene called CHAMP1, which causes Emma a lot of health complications.

Emma cannot swallow or move her jaw, so she takes all her food directly into her stomach through a tube. She also has a tracheostomy cannula to help her breathe.

Since birth, she has worked hard everyday which has steadily propelled her forward

WHAT IS CHAMP1?

The CHAMP1 gene affects brain development and functioning. This gene plays an important role in maintaining the correct position of chromosomes during cell division and influences various aspects of neurodevelopment. Mutations in this gene can have a variety of clinical manifestations, including intellectual disability, speech disorders, hypotonia, seizures and other neurological difficulties.

CHAMP1 IN EMMA'S CASE

We can think of the CHAMP1 gene as an instruction manual from IKEA for assembling complex furniture with 812 parts, where each of these parts represents one of 20 different amino acids. In Emma's case, it's as if during assembly, one of these amino acids was accidentally replaced with another. The furniture can still be built, but it won't work correctly. Similarly, in Emma's case, the CHAMP1 protein won't function as it should due to that one small change. In scientific terms, such a mutation is called a missense mutation.

WHAT CAN BE DONE?

Although there are only about 150 children worldwide with a similar mutation, genetic research is underway in the USA, Europe, and Japan with the aim of either turning off the gene (using CRISPR) or disrupting the production of the protein that is encoded by this gene (using ASO). It appears that people without this gene are significantly better off than those with the mutation. The most promising possibility is the gene therapy approach, which involves introducing functional copies of the CHAMP1 gene into a patient's cells to replace the mutated or non-functional gene.

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EMMA!