Researcher in Focus - Jozef Gécz

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Jozef Gécz has long been a mover and shaker in the field of genomics.

Jozef Gécz, PhD is National Health and Medical Research Council Senior Principal Research Fellow and Channel 7 Inaugural Chair for the Prevention of Childhood Disability at the University of Adelaide and South Australian Health and Medical Research Institute.

Jozef’s career spans 32 years of competitive research in genomics and molecular biology of childhood onset neurological disorders across three countries, Slovakia, France and Australia.

Jozef arrived to Adelaide in 1994 to join the team of Prof Grant Sutherland at the WCH Hospital and with research focus on molecular genetics and mechanisms of intellectual disability. After initial success with the identification of the first non-syndromic intellectual disability gene FMR2 or bone dysplasia gene TRAPPC2 Jozef discovered or contributed to the discovery of >200 disease genes. His research interest expanded to include genetics of other neurodevelopmental disabilities, that is childhood onset epilepsies (e.g. PCDH19, CDKL5, TBC1D24), autisms (e.g. UPF3B) and more recently a specific group of movement disorders, that is cerebral palsies (first whole exome sequencing study). Jozef’s achievements have been recognised, among others, also by Fellowships of the Australian Academy of Science, Australian Academy of Health and Medical Sciences and the Faculty of Science of the Royal College of Pathologists of Australasia.

Jozef is one of the Chief Investigators and member of the National Steering Committee of the NHMRC Funded Australian Genomics effort. Jozef’s research is patient driven and patient centric. It focuses on the application of genomics for early and precise diagnosis of neurodevelopmental disabilities to empower early intervention and personalised management and treatment.

Senate Inquiry into Stillbirths

On 27 March 2018 the Senate established the Select Committee on Stillbirth Research and Education to inquire and report on the future of stillbirth research and education in Australia.

SA Genomics Health Alliance Members Hamish Scott and Chris Barnett spoke at the SA inquiry highlighting the importance of using genetic data to determine the causes of stillbirth.

Using a genomic approach and examining the entire DNA sequence of patients, they are able to identify genetic causes that underlie stillbirth.

Read the final report here

May 2018 Prestigious award for CCB professor’s genome research

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Congratulations to Professor Greg Goodall from the Centre for Cancer Biology on being awarded the Julian Wells Medal at the 2018 Lorne Genome Conference. The annual award is given to a scientist who has made an outstanding contribution to the understanding of the organisation and expression of the genome, has made a major contribution to the development of this field of research in Australia.

Launch of the Australian Functional Genomics Network

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The Australian Functional Genomics Network is a platform to enhance the relationship between clinical teams discovering disease-causing genes in patients with rare disease and cancer, and model system research teams, experts in studying gene function. Ultimately leading to faster translation of new knowledge and the implementation of discoveries into clinical practice to benefit patients.  

Connections will be made through the Network Registry and will capture the expertise around Australian and information on the gene/pathway/cellular systems groups are working on. Using the Registry, the Network will mobilise the Australian biomedical community of clinicians and scientists to work collaboratively when variants of unknown significance are identified in rare disease and cancer patients. Successful connections will be eligible for the award of “rapid response” seed grants to support immediate functional experiment relevant to a gene of interest.

Laboratory heads are encouraged to join and complete their profile now.

To learn more about the importance of the Network and how it work please visit:  www.functionalgenomics.org.au

A ‘world of knowledge’ to help Australian doctors better diagnose inherited diseases

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Australian Genomics has been named a key Driver Project for the Global Alliance for Genomics and Health (GA4GH), recognizing Australia’s leadership in integrating genomics into healthcare.

Australian Genomics is one of thirteen national genomic medicine initiatives, including Genomics England and the U.S. All of Us program, to be selected by GA4GH as Driver Projects. These will pilot GA4GH data sharing frameworks and standards in real-world healthcare settings, and share their experience and knowledge in integrating genomics into clinical practice.

GA4GH made the announcement overnight as part of the launch of its new 5-year vision to fully realise the promise of genomic medicine. Currently, genomic data generated within individual research and clinical programs are stored in databases that aren’t connected to each other. By 2022, the GA4GH expects tens of millions of genome sequences to be available from genomic research and clinical care, spanning many nationalities and ethnicities. GA4GH believes researchers and clinicians have an opportunity and a responsibility to exchange this wealth of data as part of a global ‘learning health system’ to collaboratively investigate, and diagnose, genetic disorders.

 

Australian Genomics — initially targeting rare disease and cancer—is building the evidence and piloting solutions for the effective and equitable delivery of genomic medicine in Australia. As a Driver Project of GA4GH, Australian Genomics will inform approaches to global data sharing and beyond. “The GA4GH brings together a world of knowledge for the benefit of the individual patient. By linking together national initiatives that are implementing genomic medicine into clinical practice, we can share our experience and expertise to accelerate progress toward the very best healthcare”, said Prof Kathryn North AM, Lead of Australian Genomics, Vice Chair of GA4GH, and Director of the Murdoch Children’s Research Institute.

 

“I’m delighted that Australian researchers are, once again, right in the mix of a major international endeavor to improve healthcare for all. The coming together of a global genomics community enhances our medical and scientific expertise, fosters innovation, and unlocks the potential of genomic medicine — and the beneficiaries are Australians”, said Health Minister Greg Hunt of the announcement.

Australian Genomics is made up of more than 70 Australian healthcare and research institutions, including the clinical and laboratory genetics services in each state. Many of its experts are leading key areas of work under the new GA4GH vision. ”These national and international collaborative projects are critical to understanding and managing inherited diseases as many are rare and individually may only affect a small number of families world-wide. It is a great milestone that Australia’s leadership in this area has been formally recognized”, said Dr Karin Kassahn, Head of Technology Advancement at SA Pathology.

 

About Australian Genomics: Australian Genomics is an NHMRC funded research collaboration of more than 70 organisations committed to integrating genomic medicine into healthcare in Australia. The goals of Australian Genomics are to improve diagnostics, enable early intervention and support equitable access to genomic medicine. Research by Australian Genomics is developing the knowledge to translate genomic technology sustainably into clinical practice so patients and their families benefit.

About GA4GH: GA4GH is an international, not for profit alliance formed to accelerate the potential of genomic medicine and research to advance human health. Bringing together 500+ leading organizations working in healthcare, research, patient advocacy, life science, and information technology, the GA4GH community is framing policy and developing standards to enable the responsible, voluntary, and secure sharing of genomic data.

Adelaide Researchers Driving International Collaboration in Cerebral Palsy Research

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For a long time cerebral palsy has been thought to be due to complications at birth, however, new research suggests that 35% of cerebral palsy has a genetic cause. For this group of patients, an answer may well be in the making as this year researchers have come together from as far afield as China, Canada, USA, Sweden, Turkey, and Australia to form the International Cerebral Palsy Genomics Consortium.

 

The newly formed consortium held it's first meeting in Adelaide earlier this year and has the lofty goal of building an international medical registry and DNA biobank. This platform will allow researchers to work together to identify the genes that may cause cerebral palsy.  The scientists believe that identifying the genes that cause cerebral palsy, will allow early detection of the disability, providing an opportunity for early intervention or perhaps even treatment.

Researchers  Emeritus Professor Alastair MacLennan, AO and Professor Josef Gecz from the Robinson Research Institute at Adelaide University are playing a major role in this initiative. 

"For decades, it has been the belief that cerebral palsy occurs when a child experiences a lack of oxygen during pregnancy or at birth. However, the evidence shows that at least one in four cerebral palsy cases is associated with genetic mutations," Emeritus Professor MacLennan says.

To help with their research the The Tenix and Cerebral Palsy Foundations awarded the two scientists $1 million in funding. The funds will be used to establish the online genomics database platform at Adelaide University.

"By pooling international data sets of genetically and clinically characterised cerebral palsy cases, this will enable our group to identify common neurodevelopmental pathways and probable environmental triggers.* Professor Gecz says.