Gene re­searcher on her way to Lon­don

POST Newspapers - - Community News -

The search for dis­ease genes that af­fect peo­ple’s abil­ity to per­form vol­un­tary move­ments is tak­ing Ned­lands sci­en­tist Sarah Beecroft to Lon­don, along with pre­cious ge­netic ma­te­rial from Aus­tralia and New Zealand.

Af­ter con­duct­ing ge­netic se­quenc­ing on the sam­ples at the Harry Perkins In­sti­tute of Med­i­cal Re­search, she is tak­ing her sam­ples to a team in Lon­don to learn tech­niques that she hopes will al­low her to iden­tify more new dis­ease genes.

Ms Beecroft has one more year to run on her PhD at the in­sti­tute. Her re­search has iden­ti­fied the dis­ease genes for many fam­i­lies af­fected by neu­ro­mus­cu­lar dis­eases.

“In Lon­don I will work with a team at Univer­sity Col­lege to learn par­tic­u­lar tech­niques they have de­vel­oped which we think will help us iden­tify the cause of dis­ease in fur­ther pa­tients from Aus­tralia and New Zealand,” she said.

“If con­firmed, it will give Aus­tralasian fam­i­lies vi­tal in­for­ma­tion about the con­di­tions af­fect­ing them.”

Ms Beecroft’s PhD stud­ies are funded by the Li­uzzi Foun­da­tion, a phil­an­thropic trust in Melbourne es­tab­lished af­ter the death from a rare neu­ro­mus­cu­lar dis­ease of suc­cess­ful busi­ness­man and phi­lan­thropist Fred Li­uzzi.

Mr Li­uzzi pro­gres­sively lost move­ment in ev­ery mus­cle in his body be­fore he died.

His four adult chil­dren es­tab­lished the Fred Li­uzzi Foun­da­tion, a not-for-profit char­ity that works to re­duce the im­pact of rare neu­ro­mus­cu­lar dis­ease in Aus­tralia.

The con­nec­tion with the Li­uzzi Foun­da­tion has given Ms Beecroft ac­cess to a large rare bank of mus­cle tis­sue that has been col­lected in Vic­to­ria over 20 years by neu­ropathol­o­gist Pro­fes­sor Ca­tri­ona McLean.

Ms Beecroft said: “In the past two years I have been analysing the ge­netic ma­te­rial in mus­cle biop­sies from more than 40 Vic­to­rian fam­i­lies.

“That pro­vided a study pop­u­la­tion of 150 in­di­vid­u­als suf­fer­ing neu­ro­mus­cu­lar dis­eases.

“Sev­eral new dis­cov­er­ies have been made from hav­ing ac­cess to such a con­cen­trated source of ge­netic ma­te­rial, in­clud­ing two novel can­di­date mus­cle-dis­ease genes.”

The in­sti­tute’s neu­roge- netic dis­ease lab­o­ra­tory has an in­ter­na­tional rep­u­ta­tion for iden­ti­fy­ing rare dis­ease genes.

“The work con­ducted in the lab ranges from the mi­cro­scopic to big data anal­y­sis, but the pur­pose of our work is very much fo­cused on mak­ing a dif­fer­ence for fam­i­lies,” Ms Beecroft said.

“Fam­i­lies all around the world want to know if the dis­ease that’s af­fected their baby can be found.

“If we can iden­tify a rare dis­ease gene, then a fam­ily with an af­fected child can find out what to ex­pect dur­ing their child’s life and they can make choices to en­sure fu­ture chil­dren aren’t born with the same dis­ease.

“It’s very mov­ing when your re­search can pro­vide that in­for­ma­tion.”

Sarah Beecroft at work in the Harry Perkins In­sti­tute neu­ro­ge­netic dis­ease lab­o­ra­tory.

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