Canberra Clinical Genomics director Professor Matthew Cook with Vince Townsend, Nick Townsend and Tanya Townsend.
01 March 2021
Nick Townsend has the state-of-the-art technology at Canberra Clinical Genomics to thank for the successful diagnosis of his exceptionally rare and special condition.
For most of Nick’s life he had no precise diagnosis, leaving him and his family in limbo. In 2018, Professor Matthew Cook and the team at Canberra Clinical Genomics were able to definitively explain Nick’s condition, Skraban-Deardorff syndrome.
Nick’s mum, Tanya, said they were very fortunate to meet Professor Cook.
“Now we know it’s not an inherited gene, it makes a difference for our family,” Tanya said. “Nick’s general disposition is being happy and he’s very social and just a real delight, and once we had a name for his condition, all the pieces came together."
Nick’s dad, Vince, said having a name for his son's condition is also important.
“We were at the right place at the right time to get this diagnosis and we’re so fortunate to have these medical services in Canberra,” Vince said.
“The actual level of expertise is incredible and just being able to be a part of this has been a great thing for us."
Professor Cook said at the time Nick was diagnosed only 15 people in the world were known to have Skraban-Deardorff syndrome.
“Nick’s case illustrates how important genomic testing is for families who can’t get answers about rare diseases. In some cases, as in Nick’s, we were able to pinpoint the variant in a specific gene that led to a diagnosis,” Professor Cook said.
“Since the laboratory began in late 2017 more than 300 patients have been analysed for a variety of rare diseases, among them: congenital disorders, developmental disabilities, cardiac conditions, renal presentations, immunology disorders and neurology syndromes.
“Fortunately, with an additional five-year funding agreement between Canberra Health Services and the Australian National University, more Canberra families like the Townsends will be able to use the genomic testing and analysis for rare or life-threatening conditions."
Canberra Clinical Genomics was set up with help from the Australian National University in 2017, and Canberra Health Services came on board with additional funding after that.