Commission on Excellence and Innovation in Health

Ground-breaking and life changing successes in Genomics

18 Apr 2023

Genomics can help find answers to many health con­di­tions relat­ed to chil­dren, adults and even preg­nan­cies. While the process can be ardu­ous, time-inten­sive, and some­times incon­clu­sive, it is instances like these that shine a light on the impor­tance of genom­ic test­ing and its poten­tial to change lives. 

Our Statewide Cli­nal Lead, Pro­fes­sor Chris Bar­nett helped iden­ti­fy and treat 2 rare genet­ic dis­eases here in South Australia. 

Through genet­ic test­ing, many caus­es of preg­nan­cy loss can now be iden­ti­fied, pro­vid­ing fam­i­lies with repro­duc­tive choice to improve the chance of hav­ing a healthy preg­nan­cy in the future. 

Gene ther­a­py is a tech­nique that uses a gene to treat, pre­vent or cure a dis­ease or med­ical dis­or­der. Often, gene ther­a­py works by adding new copies of a gene that is bro­ken, or by replac­ing a defec­tive or miss­ing gene in a patien­t’s cells with a healthy ver­sion of that gene. 

You can read more about these sto­ries here: 

Genet­ic spelling error’ left Ade­laide teen fac­ing blind­ness, but eye injec­tions saved his sight — ABC News

A group of local researchers is offer­ing hope to par­ents who’ve lost babies that future preg­nan­cies can be giv­en a bet­ter chance of suc­cess. — Ch9 News

Browse our web­site for more infor­ma­tion on cur­rent and upcom­ing projects of the Statewide Clin­i­cal Genomics Network.