Finding cures for children's genetic diseases

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Finding Answers through Precision Medicine

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"Being first time parents, we were told to be patient, but we ran out of patience and asked for a genetic test." - Naomi's mum, Dalal

"She was born with a cleft palate and had surgery at 8 months to correct it, but then Naomi kept missing developmental milestones. When other children were speaking, she was still silent."

The genetic test when she was 2-years-old revealed Naomi had SATB2-Associated Syndrome (SAS), a rare genetic condition, also called Glass Syndrome. There wasn’t much information available.

“I spent so many late nights reading on the internet about other kids like Naomi, asking parents thousands of questions. What can we expect? What tests do I need to do? And which therapies are best for our kids? There were so many unknowns.

"We wished the syndrome could have been spotted sooner, that people knew this strange combination of symptoms meant we needed a genetic test. Then we could have known she would have an intellectual disability, which means that although she’s five, she functions as an 18-month old. We could have begun teaching her sign language at a much younger age."

Life is full of the unexpected, but Naomi’s mum, Dalal, hopes for a future where the families of children with genetic diseases don’t face so many unknowns. That's where research comes in.

“This is why we support research like that going on at CMRI. Yes, we hold out hope for a treatment or a way to prevent this from happening to other children, but even just improving awareness is a big step."

The Research

Professor Patrick Tam is a world leader in embryology research, which provides the fundamental understanding needed to find treatments for conditions like Naomi's.


"What we have learned from studying the genome during development is that each gene is like a piece of music, but it does not happen in isolation. It is more like a symphony. Many genes work together to create an orchestra of signals to coordinate the growth and development of an embryo.

“Genes are always interacting with one another, so changes in a single gene can affect networks of other genes. SATB2-deficency, for example, the cause of Naomi’s condition, is called a ‘syndrome’ because it affects many parts of the body at once and can include cleft palate, dental abnormalities, and major problems with the head and face.

“SATB2 is a gene that, in essence, is a tuner of many other genes. A defect in this gene causes especially far-reaching impacts across the whole genome."

Professor Patrick Tam  is spearheading a new ‘precision medicine’ program that involves CMRI as well as many other collaborating paediatric research organisations. Together, they will help bring discoveries to the clinic faster.

“This program will draw on our accumulated knowledge to bring improved diagnosis and treatment possibilities to children who present to the clinic with conditions that doctors may never have seen before or for which they have no current treatments to offer."

Be a supporter of Professor Tam’s fundamental research to help find treatments and cures for children’s genetic diseases and help kids like Naomi.

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1-day.JPGNaomi, 1 day old