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Tuesday, 31 Jan 2012
Child Neurology Congress
Date: May 27-June 1 2012
The 12th International Child Neurology Congress and 11th Asian and Oceanian Congress of Child Neurology will take place as a joint meeting in Brisbane, Australia. There are a number of exciting themes in the program including:
*New developments in epilepsy
*Genetic developments and technologies in child neurology in the 21st Century
*Neurodevelopmental outcomes: global perspectives
*Cutting edge management in cerebral palsy
*CNS infection: African and Asian perspectives
*New developments in neurometabolic diseases |
Tuesday, 31 Jan 2012
Genetic Cause of Rare Immune Disease Identified A mutation in the PLCG2 gene that codes for an enzyme involved in the activation of immune cells has been found to be associated with a form of cold urticaria. It is possible that some people previously diagnosed with common variable immunodeficiency disease or with granulomatous diseases could have a PLCG2 gene mutation. Investigators at the National Institutes of Health have identified a genetic mutation in three unrelated families that causes a rare immune disorder characterized by excessive and impaired immune function. Symptoms of this condition include immune deficiency, autoimmunity, inflammatory skin disorders and cold-induced hives, a condition known as cold urticaria. The study was led by Joshua Milner, M.D., in the Laboratory of Allergic Diseases at the National Institute of Allergy and Infectious Diseases (NIAID), and Daniel Kastner, M.D., Ph.D., scientific director at the National Human Genome Research Institute (NHGRI). It will appear in the online edition of the New England Journal of Medicine on Jan. 11, 2012.
The mutation discovered occurs in a gene for phospholipase C-gamma2 (PLCG2), an enzyme involved in the activation of immune cells. The investigators have named the condition PLCG2-associated antibody deficiency and immune dysregulation, or PLAID. "Investigating rare diseases gives researchers more clues about how the healthy immune system functions," says NIAID Director Anthony S. Fauci, M.D. "More importantly, identifying the genetic cause of these disorders opens up possibilities for better disease management and potentially a cure for people who may have spent their entire lives debilitated by severe and unexplained symptoms." |
Wednesday, 25 Jan 2012
Genetic Support Council’s Event on the 22 Feb 2012 to observe World Rare Disease Day. The last day of February has been designated as World Rare Disease Day to call attention to rare diseases, which affect nearly 1.2 million Australians and countless others around the world, as an important global public health concern. Internationally, definitions vary among countries. Australia, for example, defines a rare disorder as a condition that affects about 2,000 people, while in the United States it is about 200,000 people. 80% of rare diseases have identified genetic origins. Event Flyer: http://www.geneticsupportcouncil.org.au/uploads/pdfs/RDE%20Flyer%20Feb%202012_1929.pdf |
Wednesday, 21 Dec 2011
Thursday, 15 Dec 2011
DNA discovery may boost stem cell safety
Sarah Kellett, ABC Science
28/11/2011 A region of DNA that can boost the growth of stem cells has been found in the largest ever study of human embryonic stem cells. The discovery could lead to safer cell therapies, says study co-author Dr Andrew Laslett from CSIRO Materials Science and Engineering. The research by the International Stem Cell Initiative involved 38 laboratories across the globe studying 125 ethnically diverse cell lines in parallel experiments.
Study findings, reported in today's issue of Nature Biotechnology , uncover changes that arise from how cells are grown. |
Thursday, 15 Dec 2011
Funding and Contracting Reforms: Why there are changes. If you are a not-for-profit organisation, you are likely to be aware that there are some significant changes to how these organisations receive funding and contracting. So why is this?
In December 2010 the Partnership Forum, at the request of the Premier, provided advice to the WA State Government regarding the issue of inadequate funding levels to the community sector and the need to establish both an immediate and sustainable resolution to the funding shortfall, including the need to reform contracting and implementation arrangements between the government and not-for-profit sector.
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Thursday, 15 Dec 2011
Perth Pathology study calls for Parkinson’s patients
Science Network Western Australia
29/11/2011 A NEW collaborative study between ECU ParkC and Perth Pathology is hoping to discover the genetic link to Parkinson’s disease.
Director of ParkC Dr Meghan Thomas says that the team involved in the study is interested in looking at whether there are genetic risk factors associated with particular aspects of Parkinson’s.
“There is a hereditary form of Parkinson’s, but where it isn’t hereditary, we don’t quite know what causes it, but we think there may be some genes that may make people more or less susceptible to developing Parkinson’s.”
To undertake the research, ParkC will be collecting DNA samples from people with Parkinson’s. Dr Thomas says, “Anyone can participate in the study, but ideally we would like people to also complete some thinking, and motor assessments. It is incredibly important that we can match the DNA analysis with the symptoms that people have.” Further Information
The Parkinson's Centre (ParkC) is a new ECU research Centre founded on collaborative partnerships between the Cambridge Centre for Brain Repair, University of Western Australia, Curtin University of Technology, and the Parkinson's Association of Western Australia.
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Thursday, 15 Dec 2011
WA to get preclinical cancer imaging equipment
THE Western Australian Institute of Medical Research (WAIMR) will soon be home to vital imaging equipment for preclinical cancer research, the first of its kind in Australia. |
Thursday, 24 Nov 2011
ADHDgene: a genetic database for attention deficit hyperactivity disorder.
Zhang L, Chang S, Li Z, Zhang K, Du Y, Ott J, Wang J. 2011 Nov 10 Abstract With a worldwide prevalence of ~5%, attention deficit hyperactivity disorder (ADHD) has become one of the most common psychiatric disorders. The polygenetic nature of ADHD indicates that multiple genes jointly contribute to the development of this complex disease. Studies aiming to explore genetic susceptibility of ADHD have been increasing in recent years. There is a growing need to integrate the genetic data from various genetic studies to provide a comprehensive data set and uniform access for convenience of in-depth data mining. So far, there has been no such effort for ADHD. To address the genetic complexity of ADHD, we developed the ADHDgene database by integrating ADHD-related genetic factors by profound literature reading. Based on the data from the literature, extended functional analysis, including linkage disequilibrium analysis, pathway-based analysis and gene mapping were performed to provide new insights into genetic causes of ADHD. Moreover, powerful search tools and a graphical browser were developed to facilitate the navigation of the data and data connections. As the first genetic database for ADHD, ADHDgene aims to provide researchers with a central genetic resource and analysis platform for ADHD and is freely available at http://adhd.psych.ac.cn/. Information Source: Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing 100101 and Graduate University of Chinese Academy of Sciences, Beijing 100049, China. PMID: 22080511 [PubMed - as supplied by publisher] Free full text. Available: http://www.ncbi.nlm.nih.gov/pubmed/22080511?dopt=Abstract |
Thursday, 24 Nov 2011
Rare Disease Day 2012
Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and the National Alliances of Patient Organisations at the national level.
February 29, 2012 marks the fifth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 25 European countries. On this day hundreds of patient organisations from more than 40 countries worldwide are organising awareness-raising activities converging around the slogan “Rare but strong together”.
Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand! Get involved! The Info Pack gives you background information on Rare Disease Day and will help you understand the choices made and how they will help us achieve our awareness raising goal. |
Thursday, 24 Nov 2011
Study about Direct-to-consumer personal genome testing (DTC-PGT) GENETICS ONLINE
Welcome to a study being conducted by researchers from the Sydney Medical School at the University of Sydney. This project is investigating Australian consumers’ views about direct-to-consumer personal genome testing (DTC-PGT). We are interested to learn about what you think this new technology has to offer and what value it delivers to its consumers.
This will provide valuable information about the demand for online genetic tests in Australia and may inform decisions about regulation in this area, as well as the need for support services. This survey will take only 5 minutes of your time and will ask:
1. Information about you (but not information that could identify you)
2. What you know about DTC-PGT
3. Your views about DTC-PGT, and
4. Your experience of DTC-PGT (if you have already used these services) All responses will be treated confidentially and you will not be able to be identified in any publications arising from this research. At any time, should you choose to stop, you can close the browser window without submitting your answers. At the end of the survey, you can indicate whether you would be willing to be interviewed by one of our researchers. This study has been approved by the University of Sydney Human Research Ethics Committee. |
Wednesday, 16 Nov 2011
Familial Hypercholesterolaemia (FH) Support Group FH is an inherited disorder of cholesterol metabolism leading to premature coronary heart disease. Next Meeting is 13th February 20112 Time: 7.00pm
Location: 37 Hampden Rd NEDLANDS WA 6000 All Welcome! Interested in being on the committee? have a spare hour a month to contribute towards the development and raising awareness about the support group and FH? Contact a member today: Chairperson Gail 0413 999 875 The FHWA nurse can also help with any queries
Please call: (08) 9224 8092 or email: fhwa@health.wa.gov.au |
Tuesday, 15 Nov 2011
Genomics giant joins fight to beat autism
PHG Foundation, 3 November 2011
By Rebecca Bazeley A new collaboration aims to sequence the entire genomes of more than 2,000 families affected by autism. The two-year partnership between global leader in whole genome sequencing, BGI, and the US autism science and advocacy organisation, Autism Speaks, will yield the largest library of sequenced genomes of individuals with autism spectrum disorders (ASD). |
Tuesday, 15 Nov 2011
International project to examine epilepsy genomics
PHG Foundation, 7 November 2011
By Dr Philippa Brice A new international genomics project will try to uncover the genetic basis of epilepsy and further the search for new diagnostic and therapeutic options. |
Tuesday, 8 Nov 2011
Feedback to ensure better information for the management of ADHD in children and adolescents
Summary media release information
Date: 03 November 2011
Contact for further information:
Claire Pitham 02 6217 9350 or 0422 008 512
Individuals and organisations are invited to review and comment on draft Clinical Practice Points (CPPs) on Attention Deficit Hyperactivity Disorder (ADHD) in children and adolescents, prepared by the National Health and Medical Research Council (NHMRC).
The NHMRC is committed to providing useful and up to date advice, to assist parents and medical professionals to recognise and appropriately treat ADHD.
The draft ADHD CPPs provide practical guidance for health professionals on the diagnosis, assessment and appropriate management of clinically significant symptoms of inattention, impulsiveness and hyperactivity.
“The CPPs have been developed by experts in the area to ensure that clinicians have reliable information to support their management of children and adolescents with the symptoms of ADHD,” Professor Warwick Anderson, NHMRC Chief Executive Officer said.
“It’s important that families across Australia are confident that their clinicians have the information they need to appropriately review a broad range of signs and symptoms, to limit the inappropriate diagnosis of ADHD.
“ADHD is an important health issue. We need to provide the best possible advice about the management of ADHD as soon as we can.
The draft Clinical Practice Points focus on the ongoing assessment and review by a multidisciplinary team, with input from family and educators to ensure the best possible ongoing management. They also provide advice on the use of stimulant medication as a means of pharmacological management.
The CPPs have been prepared by an expert working group chaired by Professor Bruce Tonge, a child and adolescent psychiatrist and Head of Discipline of Psychiatry at Monash University in Melbourne. Other members of the working group have expertise in psychiatry, clinical psychology, neuro-psychology, paediatric health, family intervention, Indigenous mental health and general practice. This group also included a member who has had personal and family experience with ADHD.
The CPPs are the consensus view of the expert working group on what constitutes good practice. They complement broader evidence-based guidance and can be used in conjunction with existing policies.
The status of draft clinical guidelines on ADHD has been uncertain for too long because of conflict of interest allegations against a leading American researcher in the treatment of ADHD. The development of these CPPs ensures that people affected by ADHD have access to up-to-date, expert advice about ADHD that they can rely on.
Public consultation on the ADHD Clinical Practice Points is open to Monday 28 November. The document and information on how to make a submission can be found at http://consultations.nhmrc.gov.au.
Media Contact:
Claire Pitham 02 6217 9350 or 0422 008 512 |
Tuesday, 8 Nov 2011
Project Grants - Open 7 December
NATIONAL HEALTH AND MEDICAL RESEARCH COUNCIL The Project Grants Funding Scheme (for funding commencing in 2013) will open on Wednesday 7 December 2011 and close on Wednesday 14 March 2012. |
Wednesday, 2 Nov 2011
Cervical screening in Australia 2008-2009
The National Cervical Screening Program aims to reduce incidence, morbidity and mortality from cervical cancer. Cervical screening in Australia 2008-2009 presents national statistics monitoring the NCSP using new performance indicators. For women in the target age group, 20-69 years, participation in the program was around 59%, with more than 3.6 million women screened over the 2 years 2008-2009. Cervical cancer incidence remains at an historical low of 9 new cases per 100,000 women, and deaths are also low, historically and by international standards, at 2 deaths per 100,000 women.
AIHW catalogue number (CAN57).
Available from CanPrint for $26 (1300 889 873).
Report Available: http://www.aihw.gov.au/publication-detail/?id=10737420251 |
Wednesday, 2 Nov 2011
Health insurance still too expensive, says new report Older Australians want private health insurance but for many it’s still out of reach, a new study has found. The report A Carrot and a Big Stick: Understanding Private Health Insurance and Older Australians was conducted by the National Seniors Productive Ageing Centre using data from the Australian Bureau of Statistics and the Private Health Insurance Administration Council. The study showed that despite the proportion of over 50s covered by private health insurance rising from 40% in 1998 to about 52% today, nearly two thirds of those without insurance said they could simply not afford it. Affordability is the key reason people of any age do not purchase health insurance, the researchers found. About 59% of those under 50 and about 65% aged 50-79 cite ‘cannot afford it/too expensive’ as the reason for not purchasing health insurance. The report also said almost 180,000 Australians aged 50 and over are paying a Lifetime Health Cover surcharge on their health insurance policy of between 40% and 70% with many more subject to a lesser surcharge. |
Wednesday, 2 Nov 2011
National health reform delivers faster treatment in WA
National health reform is delivering improved waiting times across Western Australian hospitals with Fremantle Hospital a striking example of the improvements that are taking place. Minister for Health and Ageing Nicola Roxon toured the Fremantle Hospital emergency department, which has seen a 30 per cent increase in the number of patients admitted, treated or transferred within four hours. “When work started here at Fremantle Hospital in March 2009 there were only 53.8 per cent of patients admitted, treated or discharged within four hours. This has now increased to 84.4 per cent in June 2011,” Minister Roxon said. “This improvement has come about because a change in how the whole hospital works together. “It is important that this happened in a safe way. We know that as the waiting times reduced, so did the mortality rate from emergency admissions.” The WA Government’s Four Hour Rule program was made possible by $56.4 million funding from the Commonwealth Government in 2008/09.
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Wednesday, 2 Nov 2011
Nothing like mother’s milk: potential treatments from stem cells in breast milk
Researchers have identified stem cells in human breast milk, which behave similarly to embryonic stem cells when cultivated in a medium containing nutrients. The finding suggests breast milk could be used as a non-invasive and plentiful source of stem cells, which also bypass the ethical concerns surrounding the use of embryonic stem cells, for innovative stem cell therapies. Stem cell therapy is a promising and rapidly developing field, as it could enable treatment of currently fatal diseases. One of the limiting factors to developing successful therapies is the source of stem cells.
There’s much debate about the ethics of using human embryonic stem cells, which have the potential to differentiate into most human adult cell types. This ability to differentiate into almost all body cell types makes embryonic stem cells unique, and has not been found in adult stem cells, such as those from the bone marrow. Stem cells found in breast milk have now been demonstrated to have many of the properties of embryonic stem cells, including the ability to regenerate, but also differentiate into many different body cell types. |
Thursday, 22 Sep 2011
Australian breakthrough in Schizophrenia research
ABC Breakfast 19/09/2011 Australian researchers have identified five new regions of the human genome associated with Schizophrenia as part of a worldwide project -- a key step towards being able to identify those who are at a greater risk of developing the condition. |
Wednesday, 19 Jan 2011
 The Genetic Support Council has updated the “Directory of Genetic Support Groups and Community Support Organisations in Western Australia”. This new edition will now include the condition/syndrome Synonyms and Subdivisions, by including this people can browse by condition to access the right support group. These categories will be included online once the Councils new website has been developed. If you belong to a support group or organisation which does not appear in our directory and you would like to be listed please ph: (08) 9485 8999 or email info@geneticsupportcouncil.org.au
Aim of the Directory The aim of the Directory is to assist with referral for individuals, and families with either a known or newly diagnosed genetic condition or predisposition. The Community Support Organisations listed in the 2nd section of the Directory provide additional support or assistance to individuals and families. - Online version is continually updated
- Please contact our office if you are having any difficulties downloading this document.
P: (08) 9485 8999 Please Note: PDF documents in this site are formatted using the Accessibility Features in-built to Adobe Acrobat 8.0.
Attention visually impaired visitors: To use common screen reading programs with PDF documents, please visit access.adobe.com, which provides a set of free tools that convert PDF documents to simple HTML or ASCII text |
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