News and Announcements

KCCG Newsletter

KCCG News Issue 4

(17 July, 2016) Contents: KCCG production news; accreditation update; KCCG production news; seminars; KCCG publications; KCCG presence and presentations; PrecisionFDA Challenge award; Open Science Prize finalists; online tour launch; NSW Genomics Collaborative Grants; benefits of WGS for intellectual disability; towards an Undiagnosed Diseases Program in NSW; Genioz survey launched; staff news; Medical Genomic Reference Bank update; upcoming events; connect with us online.

KCCG News Issue 3

(24 December, 2015) Contents: Partnership with Genomics England; update on the Sydney Genomics Collaborative; KCCG production news; staff profile (Mark Cowley); courses and workshops; KCCG presentations; connect with us online.

KCCG News Issue 2

(20 October, 2015) Contents: Sydney Genomics Collaborative update; KCCG production news; clinical accreditation; Lisa Ewans, clinical geneticist and student (profile); KCCG conference presentations; education events; connect with us online.

KCCG News Issue 1

(3 August, 2015) Contents: clinical accreditation; Sydney Genomics Collaborative kick-off; KCCG production news; publications; Dr Leslie Burnett, genetic pathologist (profile); KCCG showcase; new staff; connect with us online.

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Press releases and online features

International experts share insights into genomic healthcare at Australia’s first clinical genomics symposium

(20 December, 2016) Garvan hosted international speakers Dr Stephen Kingsmore (Rady Children’s Institute for Genomic Medicine, San Diego) and Dr Richard Scott (Genomics England) for the inaugural Annual Australian Clinical Genomics Symposium on 19 and 20 November, 2016.

Sir John Chisholm visits Garvan to discuss cooperation with England in genomic medicine

Garvan was pleased to host Sir John Chisholm FREng CEng FIEE, Executive Chairman of Genomics England, in November. During his visit, Sir John spoke about the UK’s 100,000 Genomes Project, and about how the rise of clinical genomics in the UK will change healthcare and the economy.

Genomes of healthy older Australians to accelerate medical research in NSW and beyond

(16 December, 2016) Information about the genome sequences of 1200 of Australia’s healthy older people has been made available to medical researchers worldwide, with the launch of the Medical Genome Reference Bank today by Garvan and NSW Health.

New Centre for Research Excellence to transform diagnosis and management of severe neurocognitive disorders

(05 December, 2016) A new Centre for Research Excellence, which aims to transform diagnosis and management of severe intellectual disability (also known as neurocognitive disorders) through genomics, is to be established in Australia. The Centre is one of six clinical Centres of Research Excellence (CREs) to receive funding from the NHMRC.

The Centre’s team is led by Dr Tony Roscioli (Team Leader in Rare Disease Genomics at the Garvan Institute of Medical Research) and includes researchers and clinicians from across Australia, who together have internationally recognised expertise in neurogenetics research, genomics, bioinformatics, health economics and clinical practice.

Garvan Institute achieves major milestone: 10,000 genomes sequenced

(18 October, 2016) Garvan’s Kinghorn Centre for Clinical Genomics (KCCG) has achieved a major milestone by sequencing its first 10,000 whole genomes since it acquired and installed its Illumina HiSeq X Ten system in 2014.

Alan's story: a life-changing diagnosis through genome sequencing

(24 September, 2016) Garvan is delighted to share the inspirational story of seven-year-old Alan, whose life-threatening immune disorder has been held at bay through the power of genomic information. More of his story can be found in our in-depth web feature.

Cancer Institute NSW grant brings advanced genomics technology to Australia

(Sep 19, 2016) Researchers across NSW will be able to explore genomic changes in cancer cells more comprehensively than ever before, following Garvan’s acquisition of the ‘Chromium Genome Solution’ (10x Genomics, Inc). The technology has been purchased with the aid of a Research Equipment Grant from Cancer Institute NSW.

NSW leadership in the global advance of clinical genomics

(Aug 29, 2016) Genomics has come of age. The massive reduction in DNA sequencing costs, approximately one million-fold since the completion of the first draft of the human genome 15 years ago, has brought this once elite field into the practical realm, not only to enable research into human health but also, increasingly, for productive applications in healthcare. In this article, which originally appeared in the August issue of the OHMR Innovator, the newsletter of the NSW Office for Health and Medical Research, Garvan’s Executive Director, Professor John Mattick, describes how initiatives in New South Wales place the state at the forefront of advances in clinical genomics in Australia and beyond.

New era in genetic disease diagnosis with Australia’s first whole-genome testing service to be launched today

(Jul 27, 2016) The Garvan Institute of Medical Research’s Kinghorn Centre for Clinical Genomics will launch Australia’s first clinical whole-genome sequencing service at an event today in Sydney. This new service could triple the diagnosis rates for Australians living with rare and genetic conditions. For more information about the clinical service, for providers or patients, please visit

Garvan team a top performer in international genomics challenge

(Jul 06, 2016) A team from Garvan's Kinghorn Centre for Clinical Genomics was a top performer in last week’s precisionFDA ‘Truth Challenge’ – an online competition designed to test the performance of genome informatics pipelines worldwide.

Landmark Lions project to provide genome sequencing to hundreds of Aussie kids with cancer

(May 14, 2016) Hundreds of Australian children with high-risk cancer will have access to new genome sequencing technologies that could guide their treatment, following the announcement today of substantial Lions Club funding for the Lions Kids Cancer Genome Project – an important new component of the Zero Childhood Cancer Program for diagnosis and treatment of childhood cancer.

MyGene2 website reaches Open Science Prize final

(12 May, 2016) A joint project by the University of Washington (Seattle) and Garvan is one of six finalists for the Open Science Prize, it was announced on Monday. The research team were recognised for their work in developing MyGene2, a website that helps families living with rare genetic disease to find others with mutations in the same gene.

NSW Health collaborative genomics grants announced

(Apr 27, 2016) Six NSW research teams will receive support from the NSW Government to investigate the genomic underpinnings of disease, it was announced today.

Handling big data in genomics: Garvan partners with NCI

(25 February, 2016) The Garvan Institute of Medical Research has become a collaboration partner of the National Computational Infrastructure (NCI), bringing together the southern hemisphere’s largest genome sequencing centre and its most powerful supercomputing environment for data-intensive research. Together, the two institutions will develop systems for the secure, centralised storage and analysis of genomic information in Australia.

45 and Up: working with Australia’s biggest health study

(Nov 18, 2015) The Garvan Institute’s Kinghorn Centre for Clinical Genomics (KCCG) is embarking on a collaborative genome sequencing project with the Sax Institute, whose ‘45 and Up’ study is the largest ongoing study of healthy ageing in the southern hemisphere.

Garvan Partners with Genomics England

(25 September, 2015) Garvan has signed a memorandum of understanding with Genomics England, the organisation established by the UK’s Department of Health to deliver the world-first 100,000 Genomes Project. The two organisations will share resources and expertise to advance genomic medicine in Australia and the UK.

Genomics initiative to help children with genetic disorders

(10 September, 2015) Garvan is embarking on a groundbreaking project to sequence and analyse the genomes of up to 60 children in NSW with severe intellectual or developmental disability, along with their families.

Test drive a $1000 genome

(30 July, 2014) The Garvan Institute of Medical Research, DNAnexus and AllSeq have teamed up to offer the genomics community open access to the first publicly available test data sets generated using Illumina’s HiSeq X Ten, an extremely powerful sequencing platform. *Note: this data is still available.

Garvan Institute welcomes NSW funding of Sydney Genomics Collaborative

(17 June, 2014) The Garvan Institute of Medical Research welcomes today’s announcement of $24 million in State Government funding for a genomics research collaborative, saying it would deliver long-term health benefits and put NSW at the cutting edge of medical research. The NSW Government also released a budget announcement that highlights the Collaborative.

The future of genomic medicine has arrived in Australia

(15 January, 2014) The transformation of medicine by human genome sequencing has moved closer following the announcement today that Sydney’s Garvan Institute of Medical Research is one of the first in the world to acquire machines that can sequence a whole human genome at a base cost below $US1,000.

Partner and funder press releases

NSW takes the lead in genomic medicine: 2014/15 NSW Genomics Collaborative Grants announced

(5 March, 2015) Four teams of NSW based researchers will share $2.72 million to explore better treatments for cancer, mitochondrial disease, inherited heart disease in babies and schizophrenia. Associated files: press release and list of grant recipients.

Personalis and the Garvan Institute Announce Commercial Partnership for Whole Human Genome Sequencing, Analysis and Interpretation

(20 October, 2014) Collaboration to bring together high-quality, large-scale whole genome sequencing with best-in-class analysis and interpretation services for research and clinical applications.

RDSI story: Australia's healthy human genome reference collection

(1 September, 2014) RDSI and Intersect Australia are helping the Garvan Institute of Medical Research to provide Australian genomics researchers with cost-effective whole human genome sequencing.

QFAB, Garvan team for genomic sequence analysis

(3 August, 2014) Brisbane’s QFAB Bioinformatics and Sydney’s Garvan Institute of Medical Research have formed a partnership covering whole human genome sequence data analysis.


Media around the first Australian Understand Your Genome event

In April, 2014, the Garvan Institute of Medical Research hosted the first Australian Illumina Inc. Understand Your Genome program. This innovative, hands-on program offered 50 selected participants the opportunity to learn about the information within our genetic code by exploring their own genome.

Genomes the path to future wellbeing (1 April, 2014)

Genomics key to future of Healthcare (9 April, 2014)

Geronimo moments for first-mapped Australian genomes (9 April, 2014)

Executives perfect pioneers for genomic medicine (9 April, 2014)


KCCG staff in the news

Garvan researchers awarded NSW Health Early-Mid Career Fellowships

(23 December, 2016) Three of Garvan’s emerging research leaders – Drs Mark Cowley, Cindy Ma and Joanne Reed – have been awarded three-year Fellowships through the NSW Health Early-Mid Career Fellowship Scheme. ... Dr Cowley (Team Leader, Translational Genomics, Kinghorn Centre for Clinical Genomics) will use his Fellowship to develop state-of-the-art bioinformatic approaches to glean new layers of information from an individual’s genome sequence. Ultimately this work will improve health outcomes for patients with genetic conditions, through comprehensive characterisation of individual genomes across the entire spectrum of genomic variation.

Mark Cowley and Marina Pajic top-ranked applicants for Cancer Institute NSW Fellowships

(8 April, 2014) Dr Marina Pajic and Dr Mark Cowley from Garvan were awarded Cancer Institute NSW Fellowships this year, each ranked as top applicant in their category, a Career Development Fellowship and Early Career Fellowship respectively.

© Garvan Institute 2013