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Dr Svetlana Baltic, Senior Scientist,<br />

Molecular Genetics Unit at Harry<br />

Perkins Institute of Medical Research<br />

and MASAC member<br />

A LOCAL RESEARCH BREAKTHROUGH<br />

AFWA CONTRIBUTING TO LOCAL RESEARCH<br />

Dr Svetlana Baltic was awarded a Project Grant<br />

of $26,500 from Asthma Foundation WA (AFWA),<br />

as part of the research grants announced during<br />

National Asthma Week in September 2013, and<br />

the final report from her research has recently<br />

been published.<br />

Dr Baltic’s research was entitled “Aberrant<br />

alternative splicing defines the severity of<br />

asthma.”<br />

Dr Baltic explains, “We have always known that<br />

asthma had a link to the immune system, but until<br />

now, researchers haven’t understood exactly why the<br />

genes involved in the immune system act differently in<br />

people with asthma. Every human cell contains a full<br />

range of human genes. But those genes are expressed<br />

in different ways – or have different variations –<br />

depending on the type of cell.”<br />

The gene variants are produced by a process called<br />

“alternative splicing”. Alternatively spliced genes are a<br />

normal phenomenon – around 95% of all human genes<br />

are alternatively spliced. But sometimes in disease, the<br />

expression of these variations is abnormal, and the cells<br />

don’t function as they should.<br />

Dr Baltic noted, “in our studies so far, we have shown<br />

that there are different variants of genes expressed in<br />

people with asthma compared with people without<br />

asthma. This difference also determines whether a<br />

person has mild or severe asthma.”<br />

Dr Baltic continued, “We have also discovered that<br />

variants within two specific genes, known as SETD7<br />

and KDM6A can influence the function of the whole<br />

immune system, affecting hundreds of genes. This<br />

means that using gene therapy, we can now correct<br />

the expression of these variants, and actually change<br />

the expression of many of the genes that affect the<br />

function of the immune system. This could make a<br />

person with asthma’s condition less severe, or maybe<br />

cure their asthma all together.”<br />

This discovery marks the beginning of exciting new work<br />

on these gene variants. Dr Baltic’s research suggests<br />

that we need to understand the mechanisms of what<br />

regulates the ‘alternative splicing’ and expression of<br />

specific splice variants. This potentially means new<br />

treatments for people with asthma could be on the<br />

horizon.<br />

AFWA CEO David Johnson said, “Dr Baltic has<br />

recently joined AFWA’s Medical and Scientific Advisory<br />

Committee (MASAC) which is made up of clinicians,<br />

researchers and physicians who are all working at the<br />

forefront of respiratory research. We look forward to<br />

Dr Baltic’s input and experience to AFWA’s ongoing<br />

research funding and her gene research outcomes is<br />

very positive for asthmatics.”<br />

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