A massive congratulations to our very own Professor Edwin Kirk, appointed a Member of the Order of Australia (AM) in the 2023 Australia Day Honours List.

Pro­fes­sor Edwin Kirk was sneak­ing in a quick check of his work emails while on a fam­i­ly hol­i­day when he found out he was to be appoint­ed a Mem­ber of the Order of Aus­tralia (AM) in the 2023 Aus­tralia Day Hon­ours List.

He said he was star­tled and delight­ed in equal mea­sure at the honour.

“I had felt a bit guilty about check­ing my email – but when I saw that par­tic­u­lar mes­sage, I was very glad that I had!” he said.

Pro­fes­sor Kirk works in the NSW Health Pathol­o­gy Genomics Lab­o­ra­to­ry at Rand­wick and is both a clin­i­cal geneti­cist and genet­ic pathol­o­gist – a rare combination.

He has been recog­nised for his sig­nif­i­cant ser­vice to genet­ic pathol­o­gy and clin­i­cal genet­ics, and to med­ical research.

Among his many achieve­ments and appoint­ments, Pro­fes­sor Kirk is cur­rent­ly co-leader in a ground-break­ing nation­al repro­duc­tive genet­ic car­ri­er screen­ing study known as Mackenzie’s Mis­sion.

In recent years, thou­sands of Aus­tralian cou­ples tak­ing part in the study have been screened for about 750 severe, child­hood-onset genet­ic con­di­tions, giv­ing them infor­ma­tion about their like­li­hood of hav­ing a child with any of these genet­ic conditions.

Prof Kirk cred­its Rachael and Jon­ny Casel­la for their tire­less advo­ca­cy in mak­ing the project pos­si­ble. Macken­zie, after whom the project is named, was their daughter.

“When we start­ed Mackenzie’s Mis­sion, the goal was to bring car­ri­er screen­ing to all Aus­tralian cou­ples who wish to access it, free of charge,” Prof Kirk said.

“That remains the goal, and we are still work­ing towards it.”

Prof Kirk said he jumped at the chance to work in genet­ics after com­plet­ing his ini­tial clin­i­cal train­ing in paediatrics.

“I noticed that wher­ev­er I was work­ing, any time there was an inter­est­ing or chal­leng­ing diag­nos­tic prob­lem, the geneti­cists were called in,” he said.

“This was in the ear­ly to mid 1990s and even then it was obvi­ous to an out­sider that the pace of dis­cov­ery in genet­ics was rapid and accel­er­at­ing. It seemed like a field full of possibilities.”

Prof Kirk has authored or co-authored more than 125 sci­en­tif­ic pub­li­ca­tions dur­ing his two-decade long career in genetics.

In 2020 he pub­lished a book “The Genes That Make Us: human sto­ries from a rev­o­lu­tion in med­i­cine”, in which he shares expe­ri­ences and anec­dotes from his career, while recount­ing the his­to­ry of genet­ic med­i­cine and explor­ing its future potential.

“Our abil­i­ty to make diag­noses in chil­dren with rare genet­ic con­di­tions is dra­mat­i­cal­ly bet­ter than when I start­ed; this is very reward­ing, both in the lab and at the bed­side,” he said.

“A diag­no­sis can have a very large, pos­i­tive impact for a fam­i­ly in all sorts of ways.”

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