Med­i­cal break­through

Southern Gazette (South Perth) - - News -

Amer­i­can Jour­nal of Med­i­cal Ge­net­ics “But we had to be sure we had the cor­rect an­swer. This was a chal­lenge be­cause no­body had de­scribed faults in this gene in fam­i­lies any­where in the world.”

He said another chal­lenge was that the chil­dren were Abo­rig­i­nal and there was no ac­cu­mu­lated ge­nomic ref­er­ence ma­te­rial for Abo­rig­i­nal chil­dren.

“Our abil­ity to in­ter­pret what we had dis­cov­ered was hin­dered be­cause we didn’t have that base un­der­stand­ing of the range of nor­mal from which to work,” Dr Bay­nam said.

“We didn’t know if it re­ally was rare or whether it was some­thing com­mon in the Abo­rig­i­nal pop­u­la­tion that had just not been doc­u­mented.”

He said the pro­longed process in­volved in con­firm­ing a di­ag­no­sis for the fam­ily high­lighted the dif­fi­cul­ties and health in­equities posed by the lack of ge­nomic in­for­ma­tion and ref­er­ence data for Abo­rig­i­nal peo­ple.

A FAM­ILY with three chil­dren who all have med­i­cal prob­lems will no longer have to search for an­swers to their ill­ness.

Their rare ge­netic con­di­tion has been iden­ti­fied by a Kens­ing­ton clin­i­cal ge­neti­cist af­ter a decade of re­search.

The and Gareth Bay­nam doc­u­mented the first case of a fam­ily with a mu­ta­tion in the MTOR gene – a gene that reg­u­lates how cells grow, di­vide and func­tion.

The gene fault was found in three chil­dren in the fam­ily, each of whom was born with med­i­cal prob­lems that af­fected their abil­ity to learn and the struc­ture of their bod­ies.

Dr Bay­nam said es­tab­lish­ing the cause of such a rare con­di­tion meant the fam­ily could have some clo­sure.

“It means they know the cause of the con­di­tion and they can stop look­ing,” he said.

“When things go wrong, peo­ple look for rea­sons; they want cer­tainty. With­out a di­ag­no­sis, the fam­ily would al­ways have been search­ing for an­swers.”

He said he saw the chil­dren from early in their lives and was con­fi­dent the con­di­tion had an un­der­ly­ing ge­netic cause – and had an idea of the sort of con­di­tion it could be.

“But af­ter ex­haust­ing all tests avail­able to us at the var­i­ous times we saw the fam­ily, we could still not con­firm a di­ag­no­sis,” Dr Bay­nam said.

“Not hav­ing an an­swer was hard for the fam­ily, as well as those of us in the clin­i­cal ser­vices who were con­stantly hit­ting dead-ends and hav­ing to find new av­enues to ex­plore.”

Re­cently, new ge­netic tech­nol­ogy called next gen­er­a­tion se­quenc­ing, be­came avail­able.

Based on the com­bi­na­tion of find­ings in the fam­ily, the team ap­plied this new tech­nol­ogy to de­sign a test that max­imised the fam­ily’s chances of get­ting a re­sult, and it paid off.

“We found some­thing,” Dr Bay­nam said. Kens­ing­ton res­i­dent Gareth Bay­nam has iden­ti­fied a rare ge­netic con­di­tion af­ter 10 years of re­search.

Newspapers in English

Newspapers from Australia

© PressReader. All rights reserved.