— Kathryn North’s se­quen­tial life

Cosmos - - Contents -

sin­gle spell­ing mis­take in 1,000 hand-typed copies of War and Peace?

If so, you are likely to get on well with Kathryn North, the re­doubtable, ra­zor-sharp yet de­cid­edly con­ge­nial di­rec­tor of Mel­bourne’s Mur­doch Chil­dren’s Re­search In­sti­tute (MCRI), Aus­tralia’s largest or­gan­i­sa­tion in­ves­ti­gat­ing child­hood ill­ness. North has made it her life’s mission to delve deep into the three bil­lion bases that make up the hu­man genome as she hunts for the er­rors that cause dis­ease.

The 57-year-old greets me at her home in a leafy in­ner sub­urb of Mel­bourne. Her black dress and dark-rimmed specs is all-pur­pose cor­po­rate kit for some­one wield­ing a $100 mil­lion-plus re­search bud­get and whose job in­cludes meet­ings with the likes of the in­sti­tute’s found­ing pa­tron Ru­pert Mur­doch and spouse Jerry Hall. (For the record, Hall “was re­ally warm” and “just re­laxed ev­ery­body”.)

But North has a soft­ness of tone and benev­o­lent air that speaks to her past as a pae­di­a­tri­cian in Syd­ney in the 1990s, where she spe­cialised in neu­ro­mus­cu­lar dis­or­ders. How­ever, the lure of the chil­dren’s clinic would face stiff com­pe­ti­tion from her pro­found love for re­search.

She honed her early skills as a ge­neti­cist at the Univer­sity of Syd­ney where, in 1994, she earned a doc­tor­ate in neu­ro­ge­net­ics. Barely tak­ing a breath, she was off to Har­vard Univer­sity for a post­doc­toral fel­low­ship un­der Louis Kunkel, fa­mous for dis­cov­er­ing the gene for dys­trophin and the mu­ta­tion that causes Duchenne’s mus­cu­lar dys­tro­phy.

North re­turned to Syd­ney in 1995 with a grant to launch her own lab at the newly minted West­mead Hospital. Dur­ing this time, a plum po­si­tion opened up as a pae­di­atric neu­rol­o­gist. But North’s ca­reer card was al­ready signed to re­search. “Ev­ery­one said: ‘Your job’s come up, Kathy,’ and I didn’t even ap­ply for it.”

Her own rep­u­ta­tion took off with her 1999 dis­cov­ery of the ‘gene for speed’ – a vari­ant of the ACTN3 gene that codes for a pro­tein pro­duc­ing the ex­plo­sive fast twitch mus­cles of elite sprint­ers. Her CV now bris­tles with achieve­ments, in­clud­ing nearly 300 jour­nal ar­ti­cles, as­sorted pro­fes­sor­ships and a mem­ber­ship of the Order of Aus­tralia.

But there have been hur­dles, one deeply per­sonal. In a freak­ish fall from a swing aged three, one of her eyes was

ir­repara­bly gouged by a piece of metal, leav­ing her dis­fig­ured and sub­ject to end­less play­ground taunts.

Buoyed by her mother, the ex­pe­ri­ence was ul­ti­mately gal­vanis­ing. “I’d come home and be a bit up­set about it,” North re­calls. “Mum just said: ‘What is there that the other kids can do that you can’t do? Just show them.’” North clearly took the ad­vice. Her work in­cludes head­ing up Aus­tralian Ge­nomics, a col­lab­o­ra­tion of 70 Aus­tralian in­sti­tu­tions whose mission is to bring pre­ci­sion medicine – knowl­edge of how an in­di­vid­ual’s’ genes in­flu­ence their health – into stan­dard med­i­cal prac­tice.

She was one of the ex­perts be­hind The Fu­ture of Pre­ci­sion Medicine in Aus­tralia re­port, com­mis­sioned by the fed­eral gov­ern­ment and pub­lished in Jan­uary. At the re­port’s launch in Mel­bourne, she in­tro­duced Louis Clarke, a four-year-old boy di­ag­nosed at five months with a rare ge­netic dis­ease. Doc­tors did not ex­pect him to live for more than a few years.

But in 2014 he par­tic­i­pated in a re­search study that se­quenced his genome. “Very quickly we were able to iden­tify that he had a change in a gene, a dis­or­der that af­fects 1 in 10 mil­lion, af­fect­ing the trans­port of thi­amine and bi­otin in the brain,” North says.

Im­me­di­ate treat­ment with high doses of those two vi­ta­mins, which play key roles in cell me­tab­o­lism, could not re­verse Louis’ brain im­pair­ment but did stop fur­ther de­te­ri­o­ra­tion. His death sen­tence has been re­moved and his parents Martin and Amy still have their lit­tle boy, North says with clin­i­cian’s pride.

She is some­thing of a cru­sader for the ge­nomics cause, and both ef­fi­cacy and eco­nomics ap­pear to be stack­ing up be­hind her. A re­cent study of “dif­fi­cult to di­ag­nose” chil­dren, led by Zor­nitza Stark at the MCRI, found that tra­di­tional test­ing, which of­ten in­cludes painful tis­sue biop­sies, un­earthed di­ag­noses in 11% of cases at an av­er­age cost of more than $27,000. Gene se­quenc­ing, by con­trast, snared the prob­lem in 55% at a lit­tle more than $6,000 a pop.

The tests are get­ting faster, too. “We’ve just fin­ished a pilot,” North says, “where we can use ge­nomics in the in­ten­sive care set­ting, and we can do the se­quenc­ing acutely.” The study re­duced the time from blood pull to se­quenc­ing to just 65 hours.

As­pects of pre­ci­sion medicine are par­tic­u­larly data hun­gry. Re­searchers are us­ing ma­chine learn­ing to trawl vast, pooled ge­netic data­bases to link tiny er­rors in DNA with dis­ease, a hu­man­ity-wide project that prom­ises to greatly re­fine di­ag­no­sis.

So should we all be se­quenced at birth, a la Gat­taca? “If we started now and just did blan­ket se­quenc­ing, there is a big ques­tion mark over the ben­e­fits to the in­di­vid­ual,” North says.

One prob­lem is that se­quenc­ing ev­ery new­born could yield a Pan­dora’s box of ge­netic vari­a­tions whose health im­pli­ca­tions are un­clear, a po­ten­tial night­mare for coun­sel­lors tasked with ex­plain­ing it all to parents.

When it comes to the is­sue of stor­ing all that data, there is also the prob­lem of public con­cern due to a lack of un­der­stand­ing about how DNA in­for­ma­tion is kept. “Peo­ple who haven’t been fully in­formed watch CSI and think their DNA could be planted at a crime scene,” North says.

Im­prov­ing aware­ness of ge­nomic medicine is there­fore one of her goals. She re­lates the ex­pe­ri­ence of pa­tients at Mel­bourne hos­pi­tals in­vited to have genome se­quenc­ing. When well in­formed and re­as­sured of their pri­vacy, she says, 98% have agreed to share their data for use in re­search.

It is hard to say how much North’s school­yard tri­als have shaped her. What is clear is that her re­lent­less ap­proach to dis­cov­ery springs from a se­ri­ous ap­pre­ci­a­tion for in­clu­sion.

“I love net­works,” she says. “Bring­ing peo­ple around a ta­ble and get­ting them to be greater than the sum of their parts.” PAUL BIEGLER is a philoso­pher, physi­cian and ad­junct re­search fel­low in bioethics at Monash Univer­sity.

IM­AGES 01 Cour­tesy of MCRI 02 Inga Feitsma

North’s work in­cludes head­ing up Aus­tralian Ge­nomics, a col­lab­o­ra­tion of 70 in­sti­tu­tions whose mission is to bring pre­ci­sion medicine into stan­dard med­i­cal prac­tice.

Kathryn North wants make ge­nomic medicine a house­hold name. She shares her pas­sion with PAUL BIEGLER.

02 | Dr Zor­nitza Stark (right) used ge­nomic se­quenc­ing to di­ag­nose Louis Clarke’s rare dis­ease, much to his parents’ re­lief ( left).

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