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News

​July 01, 2023

PacBio Revio Long Read Sequencing Now Available in Canberra

In a significant advancement for genomic research, the PacBio Revio Long read sequencer has found its new home at the Biomolecular Resource Facility (BRF) of the Australian National University (ANU). This state-of-the-art sequencing instrument promises to revolutionize the way scientists in Canberra conduct their genetic research.

The PacBio Revio is renowned for its ability to produce long and accurate DNA sequences, making it an invaluable tool for deciphering complex genomes, studying structural variations, epigenetics, and uncovering critical genetic insights. Its arrival at the BRF marks a substantial leap forward in the ANU's research capabilities.

The PacBio long reads can tackle tricky, repetitive sections of our DNA, painting a more complete genomic picture. This technology is the go-to for spotting large genetic changes and understanding complex DNA variant(s), which are key to grasping genetic disorders. The current standard, short reads, struggle with these tasks because they're like puzzle pieces that don't quite fit the big picture. For all things genetics, long read sequencing takes the spotlight, bringing us closer to unlocking the secrets of our genes and their role in health and disease.

Canberra Clinical Genomics will be trialing the PacBio Revio over the coming months, and will begin integrating the technology through trails by mid-next year. 

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PacBio Revio 

Picture: Pacific Biosciences of California, Inc.

More information about the PacBio Revio can be found on their website: https://www.pacb.com/revio/

February 01, 2023

NATA Accreditation Renewed 

Canberra Clinical Genomics has recently been successful in renewing their NATA accreditation, awarded by the National Association of Testing Authorities. This recognition confirms that the laboratory has met rigorous standards of technical competence, quality management, and ethical practices in their genomic testing services. The renewal reflects the laboratory's commitment to delivering reliable and accurate results to their clients while adhering to the highest standards of safety and quality.

The NATA renewal is a significant achievement for the laboratory, demonstrating their dedication to excellence in the genomics field.

Information about the accreditation can be found at: https://nata.com.au/accredited-organisation/canberra-clinical-genomics-20401-24432/?highlight=Canberra%20clinical%20genomics

​March 01, 2021

Funding Continues for Rare Disease Research in Canberra

Genomics testing in the ACT is being further embedded into the Canberra health system with a new agreement signed between Canberra Health Services (CHS) and the Australian National University (ANU) to continue their joint diagnostic venture, Canberra Clinical Genomics.

Since the Canberra Clinical Genomics (CCG) laboratory began in late 2017, more that 300 patients have been analysed for a variety of rare diseases.

These rare diseases include congenital disorders, developmental disabilities, cardiac conditions, renal presentations, immunology disorders and neurology syndromes.

More information can be found at: jcsmr.anu.edu.au/news-events/news/funding-continues-rare-disease-research-canberra

​February 28, 2021 - Original Article by Cassandra Morgan, for The Canberra Times

Genetic Illnesses Become Easier to Diagnose in Canberra

"

Within 30 seconds of Nick Townsend being born, everyone knew he was a little bit different.

His father Vince Townsend said doctors first spotted his clubfoot; later, they noticed his ears were a bit lower than average, and joked Nick probably got that from his dad.

Nick was assessed by geneticists when he was a child, but they couldn't pinpoint any specific cause for his characteristics.

Ultimately, they decided Nick should fall under an umbrella term "developmentally delayed"; later, that changed to "intellectual disability".

"It was a bit vague," Vince Townsend said.

By 2018, the Townsend family - Nick, aged 22 - was used to not having answers.

Then Nick was referred to Canberra Clinical Genomics and got one: Skraban-Deardorff syndrome.


"

Read more about Nick's diagnosis here: www.canberratimes.com.au/story/7139047/how-canberra-first-tech-finally-got-nick-a-diagnosis-at-22/

Nick Townsends Story.jpg

Canberra Clinical Genomics director Professor Matthew Cook with Vince Townsend, Tanya Townsend, and their son Nick Townsend, who was recently diagnosed with the rare Skraban-Deardorff syndrome. ​Picture: Elesa Kurtz

​April 05, 2019

Canberra Clinical Genomics Awarded NATA Accreditation 

CANBERRA CLINICAL GENOMICS AWARDED NATA ACCREDITATION.jpg

Pictured from Left to Right: Dr Edward Bertram, Professor Mike Calford, Meegan Fitzharris MLA, Professor Matthew Cook, Dr Edda Koina, Mr Michael De’Ath

Canberrans with rare and hard to diagnose illnesses may have a new avenue for answers, after the Canberra Clinical Genomics facility was accredited for whole exome sequencing.

Exome sequencing involves identifying and mapping out the protein-coding region of genes in a genome, meaning variations, or errors causing illnesses can be found.

For a patient, it may be as simple as another blood test, but the technology that comes next is highly complex and not easy to do.

In a process that can take as little as four to six weeks, patients could then be given the answers they need to make treatment decisions and to inform their families of possible genetic issues.

Canberra Clinical Genomics is the only laboratory in the ACT to be accredited by the National Association of Testing Authorities and one of just 10 laboratories in the country to have the same accreditation.

​March 18, 2019 - Original Article by Sally Whyte, for The Canberra Times

Genetic Illnesses Become Easier to Diagnose in Canberra

"

Canberrans with rare and hard to diagnose illnesses may have a new avenue for answers, after the Canberra Clinical Genomics facility was accredited for whole exome sequencing.

Exome sequencing involves identifying and mapping out the protein-coding region of genes in a genome, meaning variations, or errors causing illnesses can be found.

For a patient, it may be as simple as another blood test, but the technology that comes next is highly complex and not easy to do.

In a process that can take as little as four to six weeks, patients could then be given the answers they need to make treatment decisions and to inform their families of possible genetic issues.

Canberra Clinical Genomics is the only laboratory in the ACT to be accredited by the National Association of Testing Authorities and one of just 10 laboratories in the country to have the same accreditation.


"

Read more about this story here: ​www.canberratimes.com.au/story/5992582/genetic-illnesses-become-easier-to-diagnose-in-canberra/

Genetic illnesses become easier to diagnose in Canberra.jpg

Minister for Medical and Health Research Meegan Fitzharris, with provost of ANU Mike Calford, health director general Mike De 'Ath and ANU professor of medicine Mathew Cook at Canberra Clinical Genomics, while genomics technician Rong Liang works on far right. Photo: Karleen Minney

​May 31, 2016 - Original Article by City News

Clinical Genomics Comes to Canberra

"
SIMON Corbell says the ACT is set to move to the forefront of health care delivery by investing $7.3m in new diagnosis and patient care technology that will allow new and existing drug therapies to be tailored to individual patients based on their genetics and condition.

Simon said the new Clinical Genomic Service, which will be established in Canberra as part of the 2016-17 ACT Budget, would give Canberrans access to new, personally tailored healthcare treatments.

“This new service will help clinicians to manage patients with immunological disease and other complex diseases through the use of personalised medicines that are tailored to the individual,” Simon said.

“By providing a locally available genomics and genetic pathology service, we are helping our doctors to tailor care to the individual needs of their patients with personalised medicines, which also has the potential to reduce the number of tests necessary for patients to reach a diagnosis.

“The new genomics program will build on existing research, expertise and achievements of the Centre for Personalised Immunology at the John Curtin School of Medical Research to develop genomics as part of a clinical and diagnostic service in partnership with ACT Pathology.


"

Read more from this article here: citynews.com.au/2016/clinical-genomics-comes-to-canberra/

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