Description Mid-code Crisis www.mcri.edu.au/ Thu, 31 May 2012 00:00:00 Thu, 31 May 2012 00:00:00 Sarah Leavitt /news/2012/may/annualreview.aspx It has been a busy and exciting year at the Murdoch Childrens Research Institute as we moved into our new research facility at the Royal Children's Hospital. Hear from our Director, Professor Terry Dwyer AO MD MPH, who has the pleasure of personally inviting you on behalf of the Chairman to join us for this year's Annual Review. Annual Review Thursday 31 May 2012 at 12.30pm Zinc • Federation Square • Melbourne Our passionate researchers will share their world-class discoveries: Dr Alicia Spittle • early intervention to improve development of premature babies Dr David Burgner • early origins of cardiovascular disease Dr Shireen Lamande • arthritis gene breakthrough RSVP essential by 18 May to rsvp@mcri.edu.au       /news/2012/may/annualreview.aspx /news/2012/may/annualreview.aspx Thu, 31 May 2012 00:00:00 Simone Myers /news/2012/april/spotlight-needs-to-be-on-adolescent-health.aspx In a special series on adolescent health published in the Lancet, Professor George Patton and Professor Susan Sawyer are calling for worldwide investment in the health and future of adolescents, based on research and grounded evidence about what works. About half of the world's population is now younger than 25 years, with 1.8 billion adolescents.  Today's adolescents are facing unprecedented changes in the world's social and physical environments. These changes are transforming adolescent development and, in so doing, changing the prospects for health now and in the future. In the first paper of the series, which was led by Professor Sawyer, researchers say adolescents are now more exposed than previous generations to harmful alcohol consumption, illicit drug use, tobacco use and sexually transmitted infections, among other risks. Professor Sawyer says the paper combines a wide range of research which shows there is a lack of focus on adolescent health, and that the preventable health risks initiated during adolescence commonly have lifelong consequences for health, highlighting the need to address the issue. "Adolescence could be described as a missing link in the life course approach to health.  The impacts of health-related behaviours that start in adolescents have impacts throughout their lives, for instance tobacco and alcohol use or obesity and physical inactivity contribute to the epidemic of non-infectious disease such as heart, disease, cancer, diabetes and lung disease." At least 70 per cent of premature adult deaths reflect behaviours started or reinforced during adolescence.The link between adolescent and adult health suggests that evidence based investments in healthy adolescent development have enormous implications for future global health. In the final paper in the series, led by Professor Patton, researchers analysed currently available international data that allow comparisons across countries.  In low income countries the problems of HIV, TB and maternal mortality remain endemic in this group.  With development many middle income countries are facing a new epidemic of injuries with very high rates in males in Eastern Europe and Latin America. Lastly there is now a global problem with risks for NCDs in later life.  "For the largest generation in the world's history, the available global profile of youth health is worrying.  The high income world has been grappling with a rising tide of risks for non-communicable diseases, including the problems of obesity, physical inactivity, alcohol, tobacco and illicit drug use.  This tide is now overwhelming many low and middle income countries that have yet been able to bring in measures to control the problems of injury, infectious disease and maternal mortality in this young age group," he said. "The UN and its agencies have an urgent central role in aligning systems of data collection to provide a good understanding of a rapidly changing picture of global youth health." Professor Patton also highlighted a lack of internationally comparable data in Australia.  "We are a data-rich country in many ways but we cannot make easy comparisons about the health risks our adolescents face compared to the rest of the world.  Sometimes we even have trouble making comparisons across the states." "We should be monitoring and tracking important areas such as binge drinking in youth, tobacco use, illicit drug use and obesity.  We know that with our mortality rates, we sit at 13th out of 27 high income countries with data - so in the middle of the pack. But we don't really have the full picture on how are young people are doing and if we want to improve on that ranking, it's difficult to know where to start."    Once the data has been collected, researchers say there needs to be goals set and effective preventative interventions based on good evidence. They call for improved international data and monitoring systems on adolescent health.  Lead author, Professor Patton says there is a need for better coordination across UN agencies to fill data gaps, as well as calling on each country around the world to produce a regular report on the health of its adolescents. /news/2012/april/spotlight-needs-to-be-on-adolescent-health.aspx /news/2012/april/spotlight-needs-to-be-on-adolescent-health.aspx Wed, 25 April 2012 00:00:00 Simone Myers /news/2012/april/'kids'-food-allergies-for-dummies’-book-launch.aspx Co-authored by A/Professors Mimi Tang and Katie Allen from the Institute, the book has everything parents need to know about looking after children at home and on the go, providing a safe environment at school or childcare, knowing when an allergic reaction is serious and outlines the difference between types of food allergies. The book was officially launched at the Institute on Friday by Minister for Mental Health, Women's Affairs and Community Services Mary Wooldridge.  Patricia Ilhan who co-founded the Ilhan Food Allergy Foundation with her husband John, also spoke at the event.  One of her daughters has been diagnosed with anaphylaxis to tree-nuts, which poses a constant threat if she is given the wrong food. The book explores some of Mimi and Katie's research and looks at why allergy rates are on the rise and potential future treatments for food allergy. It also provides practical information on using EpiPens, sample emergency action plans and further support materials.  /news/2012/april/'kids'-food-allergies-for-dummies’-book-launch.aspx /news/2012/april/'kids'-food-allergies-for-dummies’-book-launch.aspx Mon, 23 April 2012 14:53:00 Rony Duncan, Martin Delayticki /news/2012/april/should-you-have-your-whole-genome-sequenced.aspx It seems that yet another option might soon be available to you; whole genome sequencing. The race to develop fast and affordable methods for sequencing an entire genome has been on for some time now, and the $1000 genome sequence might soon be within reach for all of us, meaning it would be as affordable as your average computer. The question is; would you want to have your whole genome sequenced? Direct-to-consumer genetic tests have received much attention over recent years, with companies such as 23andMe and Navigenics offering online genetic tests for anyone who has a few hundred dollars to spare. Sending off a DNA sample to one of these companies will provide you with a detailed report about your personal risk of developing more than 200 conditions and traits, including breast cancer, lupus, diabetes, alcohol dependence, obesity, schizophrenia, Alzheimer disease and even earwax type. Companies offering online direct-to-consumer genetic tests currently use targeted genetic testing to provide information about genetic risk, instead of whole genome sequencing. There's a big difference between these two types of analysis, and it helps to understand the difference by imagining your whole genome is a telephone book with about 3 billion individual letters. Targeted genetic testing involves turning to specific pages within the telephone book and examining those bits only. Whole genome sequencing, on the other hand, is akin to printing out the entire telephone book. If you're contemplating paying for a whole genome sequence, there are some important facts worth noting. First, unless your whole genome sequence is accompanied by a detailed report interpreting what it contains (and possibly an experienced geneticist to answer your resulting questions) it will be much like opening up a telephone book in a foreign language. Second, even with a full report interpreting your genome sequence, current knowledge extends only to a tiny part of the human genome and so, even with an accompanying report to interpret your genome, the vast majority of your genome sequence will remain meaningless and thus be of no use to you, or your doctor. For example only about 3,500 of the 23,000 genes in the genome have been connected to a particular disease or diseases. The genetic basis for common diseases such as cancer, heart disease and diabetes remains largely unknown. Third, our knowledge of genetics is evolving so rapidly that the report you receive about your full genome will alter over time as new information becomes known. The report you receive now will be very different from the report you would receive if you waited five years, as much more will be known then, both altering and adding to the information you would receive now. Fourth, and perhaps most significantly, for a small proportion of people, serious genetic mutations will be found. For some genetic conditions, such as the risk of breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes, preventative and treatment options are available to decrease the risk of developing the condition later in life. However, for other conditions, such as Huntington disease, there is little that can be done to prevent them. Such testing can also identify that a person's parents were closely related, including that the person was the result of incest. Research indicates that individuals experience a variety of reactions following receipt of a genetic test result. For some people, having information about their future level of genetic risk is comforting, relieving a sense of uncertainty and allowing them to plan for their future and make reproductive decisions with increased knowledge. For others, the information can be distressing and highly challenging. Most research that has measured the impact of genetic knowledge has studied people who received results in a supportive environment with associated genetic counselling. We therefore know little about the implications of receiving information about multiple genetic conditions at once, with minimal support, advice or counselling. Finally, most of the genetic diseases and conditions being researched currently occur due to a combination of multiple genetic and environmental influences, meaning that a range of known and unknown genes contribute to their onset, in addition to a range of known and unknown lifestyle factors. This means that the information provided to individuals is likely to be nothing more than a range of probabilities. For example, you might find out that you have a 20% higher chance of heart attack than the general population. But what will you do with this information? Exercise more? Eat less saturated fat? Stop smoking? Do you really need your whole genome sequenced in order to follow this widely recommended advice? Of course, faster and cheaper whole genome sequencing has some exciting repercussions as well. The implications for biomedical research are considerable, and are likely to greatly expand our understanding of the genetic basis of common diseases. Being able to sequence and then analyse and compare whole genomes in such a fast and inexpensive way is also likely to bring about important advances in our study of pharmacogenomics, where drugs are prescribed specifically to best match an individual's genome, in order to obtain the highest possible benefit. However, if you are not a biomedical researcher and you are not a clinician wanting to prescribe the most effective drugs possible, whole genome sequencing may well be of limited value ... for now. *This opinion piece was written by Dr Rony Duncan and Professor Martin Delatycki from the Institute for The Conversation* /news/2012/april/should-you-have-your-whole-genome-sequenced.aspx /news/2012/april/should-you-have-your-whole-genome-sequenced.aspx Fri, 20 April 2012 10:54:00 Simone Myers /news/2012/april/cook-for-a-cure.aspx Cook for a Cure is a nationwide community event, presented by Research Australia, where friends, family, and colleagues can share a meal to support medical research. As one of the chosen charities for Cook for a Cure, funds raised for Murdoch Childrens will support the allergy research project, 'School Nuts'.  The study will measure the risk of allergy in children aged 10-14 years in their school.  Researchers at the Institute hope to identify the lifestyle factors which are common to children suffering from food allergy, in the hope of finding ways to protect children from developing food allergy and asthma.  To host an event for Cook for a Cure click here .  To donate directly to allergy research click here and select 'Cook for a Cure' when asked how you heard about Murdoch Childrens.   /news/2012/april/cook-for-a-cure.aspx /news/2012/april/cook-for-a-cure.aspx Mon, 02 April 2012 14:18:00 Simone /news/2012/april/cricket-rocks-in-support-of-cancer-research.aspx Together with the Victorian Government's Department of Health, the Ponting Foundation provides funding to support our research program to improve the psycho-social outcomes for children with cancer and their families. Funds raised at Cricket Rocks will support this program. 'Cricket Rocks' will feature live music from some of Australia's most talented artists along with special guest appearances from celebrities from the sporting and entertainment world. The event aims to raise over $250,000. Guests will join Ricky Ponting and a host of fan favourite cricketers for a great night of fundraising - indoor cricket, live entertainment, priceless auction items and more... The event will be hosted by Rianna and Ricky Ponting and be attended by their many friends from the world of cricket, sport, entertainment, business and government. The evening also includes the opportunity to bowl and bat with some of Australia's leading cricketers in the indoor nets set up for the evening. Entertainment will be headlined by up to three major acts. Justice Crew are confirmed with other acts being finalised. The event will be hosted by Eddie McGuire. Limited tickets and sponsorship opportunities are available, visit www.cricketrocks.com.au for all the details. Click here for a booking form. /news/2012/april/cricket-rocks-in-support-of-cancer-research.aspx /news/2012/april/cricket-rocks-in-support-of-cancer-research.aspx Mon, 02 April 2012 14:05:00 Simone Myers /news/2012/march/study-highlights-success-of-genetic-testing-in-school.aspx Haemochromatosis causes the body to absorb more iron than usual from food and is one of the most common hereditary diseases. Untreated the condition can cause liver cirrhosis, liver cancer, diabetes and heart damage.  Symptoms are entirely preventable by maintaining body iron in the normal range through blood donation.  At risk individuals can be identified by a simple genetic test.  Haemochromatosis is the most common genetic condition in Australia, affecting around 1 in 200 people.  Lead researcher, Professor Martin Delatycki says genetic screening for preventable disease could easily be utilised in schools.  "Our study showed genetic testing in schools for preventable disease was beneficial and can be offered in schools in a way that results in minimal harm for those at high risk of disease," he said. "The results of this study are not only relevant for haemochromatosis; genetic testing could also be utilised for other genetic markers of preventable disease such as those for cardiovascular disease and cancer as these are identified in the future." As a result of the study, the school students who were identified as being at high risk for haemochromatosis can now monitor their iron levels and give blood to ensure they don't develop symptoms of haemochromatosis.  In addition, their relatives who are at increased risk of haemochromatosis can also have testing to see if they have the condition and can take steps to prevent complications. Student Chris Baxter was identified by the study to be at high genetic risk of haemochromatosis. As a result, his father, two uncles and sister were all later tested and diagnosed with haemochromatosis. "I was extremely happy to undergo the test as I now know about this condition and can easily give blood and ensure I don't get high iron.  More importantly it has resulted in other family members being diagnosed and treated.  It was so simple to find out and yet the benefits are huge." "We are delighted that Chris was screened because not only does it mean he will not be affected by haemochromatosis but my brothers, daughter and I have been diagnosed and have taken steps to lower our iron levels and prevent disease," Chris' father, David Baxter commented. "Chris's test saved, to varying degrees, the lives of myself and my two brothers. None of us knew that we were affected by haemochromatosis, or how that might contribute to us being affected by liver problems," David said.  "I had a number of symptoms, but mainly tiredness.  However, my brother Alan had already suffered a degree of liver damage which indicated that cirrhosis had developed.  Because of Chris being diagnosed, Alan's various ailments didn't become life-threatening and the extent to which they had already affected him are reversible to a large degree."  /news/2012/march/study-highlights-success-of-genetic-testing-in-school.aspx /news/2012/march/study-highlights-success-of-genetic-testing-in-school.aspx Mon, 26 March 2012 11:53:00 Simone Myers /news/2012/march/test-will-improve-peanut-allergy-diagnosis.aspx The new two step test researchers have identified uses part of the peanut protein called 'Arah2' and involves a two-step screening process.  Researchers found they could perform a blood test, followed by the Arah2 test, which was more accurate and highly predictive than using one of the tests alone.  They found the two step testing process reduced the need for oral food challenges by four-fold.  Co-lead researcher, Thanh Dang, said the new test has many benefits.  "By reducing the number of oral food challenges, this helps prevent many peanut allergics undertaking the unnecessary risks involved with an oral food challenge." A/Professor Katie Allen said the new test could reduce the burden on clinicians and the health care system.  "Due to the rapid increase in rates of sensitisation to foods, allergy services are overwhelmed, and food challenge tests might be difficult to access.  This method would help alleviate the current strain and demand on clinical allergy services, with the allergy patient waiting times in excess of 18 months in many centres in Australia," she said. Researchers say the test would also help minimise over-diagnosis, and would reduce the number of patients requiring referral to specialist services for confirmation of a food allergy, by using oral food challenges. "Due to the long wait times for specialist's clinics, many clinicians are faced with the difficult task of having to assess the presence of food allergy based solely on a positive skin prick test or other available tests and must err on the side of caution and accept a diagnosis of 'possible' food allergy in these situations.  This approach can lead to over diagnosis of peanut allergy in the community and a potentially unnecessary burden on the health care system," Katie said.            Diagnosis of peanut allergy is relatively straightforward when there is an obvious history of clinical reaction to peanut ingestion.  However, diagnosis can be more complicated in cases in which the clinical history is not clear or in children who have not yet been exposed to a food.  Researchers say the 'Arah2' twostep process can be used in children with high risk of food allergy, such as those with eczema and other food allergies and for those who haven't eaten peanuts but have a strong family history of food allergy.  The study is published in the Journal of Allergy and Clinical Immunology . /news/2012/march/test-will-improve-peanut-allergy-diagnosis.aspx /news/2012/march/test-will-improve-peanut-allergy-diagnosis.aspx Tue, 20 March 2012 14:56:00 Sarah Leavitt /news/2012/march/brucelefroycentre.aspx On Wednesday, 28 March the Bruce Lefroy Centre showcased Murdoch Childrens new home to friends of the Institute.   Thanks to all of guests and donors for supporting the Centre and helping us raise an amazing $104,000. Every year, approximately eight million children or 6% of births worldwide are born with a serious genetic condition.  Although most individual genetic conditions are rare, collectively they are common.  These conditions have a significant impact on human health and often cause profound distress to affected families and their children. The funds raised will specifically support the Bruce Lefroy Centre's Accelerated Gene Identification Program (AGIP).  This is a program that is working to identify genes that cause genetic disease.  So far the program has identified five genes and another ten genes are expected to be identified in the coming 12 months. Donate Now         /news/2012/march/brucelefroycentre.aspx /news/2012/march/brucelefroycentre.aspx Wed, 14 March 2012 00:00:00 Simone Myers /news/2012/march/multiple-pregnancies-linked-to-decreased-risk-of-ms.aspx The study, which is published in Neurology , involved more than 800 women between the ages of 18 and 60. Nearly 300 of them had experienced a first episode of MS symptoms. For women, the number of pregnancies lasting at least 20 weeks and the number of live births were recorded. For men, the number of children born was recorded. It found women in the study with at least one child had about half the risk of early MS symptoms compared to women without children. And that risk appeared to drop with each additional child. Women with three children had a 75 per cent lower risk of early MS symptoms compared to women without children. Those benefits remained even after researchers accounted for other factors associated with the likelihood of developing MS, like smoking, skin damage and sun exposure, and certain susceptibility genes.  In a contrasting assessment for men, number of live born children did not relate to risk of a first demyelinising event, helping to exclude possible factors linked to larger family size such as socioeconomic status. Lead researcher, Anne-Louise Ponsonby said they found an association between pregnancy and a lower risk of MS symptoms, not a direct cause-and-effect link. She said, however, that this association may help explain why the incidence of MS in women has inched up over the past few decades, as more women delay pregnancy or have fewer babies or none at all. "In our study, the risk went down with each pregnancy and the benefit was permanent.  Even one pregnancy was associated with nearly a halving of risk of developing MS symptoms," Anne-Louise said. "The rate of MS has been increasing particularly among women over the last few decades, and our research suggests that this may be due to mothers having children later in life and having fewer children than they've had in past years." Researchers say more work is now needed to better understand exactly why pregnancy may lower MS risk; including the effect pregnancy has on inflammatory genes that may be involved in MS. /news/2012/march/multiple-pregnancies-linked-to-decreased-risk-of-ms.aspx /news/2012/march/multiple-pregnancies-linked-to-decreased-risk-of-ms.aspx Fri, 09 March 2012 15:33:00 Simone Myers /news/2012/march/discoveryday2012.aspx Dame Elisabeth Murdoch AC DBE opened her gardens at Cruden Farm for a family day on Sunday, 18 March 2012, which raised over $130,000 for the Murdoch Childrens Research Institute. Over two and a half thousand people joined in this year's event which featured  ALVIN & THE CHIPMUNKS and an exciting line up of entertainment including MC Kate Langbroek.   Kids' activities included rides, face painting, arts and crafts tents, Anaconda rock climbing wall, SOCCERWISE®, mini golf, pony rides, jumping castles and much, much more.   Thanks to our generous supporters we had some fantastic raffle prizes on offer this year.  Congratulations to all of our winners . Thanks once again to to all our event sponsors, supporters and, in particular the Discovery Day committee who work tirelessly to make this event possible.  And thanks to all that attended, it was a fantastic day and we hope to see you all again next year.   If you would like to collect your Guinot 'touch of Paris' photo, click here .   /news/2012/march/discoveryday2012.aspx /news/2012/march/discoveryday2012.aspx Thu, 01 March 2012 00:00:00 Simone Myers /news/2012/february/obesity-study.aspx Participants will be recruited from across Melbourne and will have their height, weight, blood pressure and waist circumference measured when they join the study and then at three, six and 12 months. Participants will be required to undertake 12 hourly online sessions and parents will be sent regular newsletters on how they can support their teenager.  Kids will be sent motivational messages during the 12-week online program. A confidential chat room will be set up to allow participants to log their food diary and record activity levels. Associate Professor Joanne Williams said the program would use the traffic light labelling system to educate teenagers on healthy food choices. "We try to get them to increase their serves of green foods and decrease their intake of red foods," she said. The programs will teach them ways to manage nutrition, exercise, weight and to improve body image. Researchers are recruiting 550 Victorian teenagers between the ages of 12 - 17 to take part in the trial. For more information call: 03 9345 6954 or email: stayingfit@mcri.edu.au For more information visit the Staying Fit webpage . /news/2012/february/obesity-study.aspx /news/2012/february/obesity-study.aspx Wed, 29 February 2012 16:17:00 Sarah Leavitt /news/2012/march/discovery-day-raffle.aspx 1 st Prize Couples Retreat: 3 night stay with Melbourne Short Stay serviced apartment and Comme dinner voucher Winner:  Anna Kolodziej $1400              2 nd Prize Bijoux pearl earring set Winner:  Naimisha Patel $1200 3 rd Prize His n' Her pack:  Love and Lustre voucher and eCommunications Samsung Galaxy tablet Winner: Vonnie O'Toole $1150 4 th Prize Food and Desire : 3 course dinner for 10, catered for at your home with a chef Winner:  Denise Harford $1100 5 th Prize SOCCERWISE® starter kit andlessons for 12 months Winner: Evelynne Grace $1100 6 th Prize South Melbourne Dance Centre classes and costume Winner: Kate & Johno Alexander $1000 7 th Prize Royce Hotel luxury weekend get-away for 2 including dinner at Dish Restaurant to the value of $100 plus 2 continental buffet breakfasts Winner: Sarah Cope $1000 8 th Prize Antler luggage pack Winner: Jason Yeap $1000 9 th Prize Romance blooms:  Rockpool voucher and Elizabeths Fine Jewellery Winner:  Rebecca Harford $950 10 th Prize Myer Mural Hall afternoon tea for 10 by The Big Group Winner:  Bruce Ellis $800 11 th Prize BodyCare Pilates 10 lesson pack Winner: Sophie Day $800 12 th Prize BodyCare Pilates 10 lesson pack Winner: David Fox $800 13 th Prize Toddler & Child Pack: Little Nest chair set & Nicepak hamper Winner:  Antony Giummarre $700 14 th Prize Phil & Teds Explorer Buggy Winner: Paula Bongiorno $700 15 th Prize Family Pack: Kinderplay rocking horse andSpotlightchildren's bed and towel set Winner: Denise Brice $699 16 th Prize Mattel Boys Hamper Winner: Craig Harris $500 17 th Prize Mattel Girls Hamper Winner: Andrew Wilson $500 18 th Prize Mattel Pre-School Hamper Winner: Christine Dahone $500 19 th Prize Disney Pack: A hamper of childrens toys and accessories Winner:  Natalie Davies $500 20 th Prize Supreme Fitness 10 x personal training sessions Winner: Carol Casper $400 21 st Prize Anaconda Standard Fluid Express Bike Winner: Tamlyn Dunn $399 22 nd Prize X-Box 360 Kinect Winner: Wayne Meecham $399 23 rd Prize Coles/Myer voucher Winner: Andrew Sinclair $200 Victorian Permit No: 10154/12. Maximum number of tickets for sale is 4000. Prizes drawn at 2.30pm Sunday 18 March 2012 at Discovery Day, Cruden Farm, Langwarrin, Victoria.  Winners names will be published in the Leader Newspapers.        /news/2012/march/discovery-day-raffle.aspx /news/2012/march/discovery-day-raffle.aspx Tue, 21 February 2012 14:06:00 Simone Myers /news/2012/february/rare-disease-day.aspx A rare disease is a disease with a prevalence of 1 in 2000 people or less affecting less than 200,000 people in the population.  There are 8000 known rare diseases, collectively affecting up to 10% of the population or over two million people including about 400,000 Australian children.   80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.   Anna Hickey is one such individual affected by a rare disease called Gorlin Syndrome.  Gorlin syndrome is an inherited 'autosomal dominant' condition, which means there is a 50% chance that children can inherit the condition from a parent with the condition.  Gorlin syndrome is a condition that affects many areas of the body and increases the risk of developing various tumours.  Anna says, the main issues for her has been "the tedium of continual medical appointments; (they are) draining physically, emotionally and financially."  Another issue for Anna is "that social engagements are planned around these appointments and there is the temptation to withdraw from society because of feeling conspicuous". On a daily basis the team at the Genetic Support Network of Victoria (GSNV), assists people with the non-clinical or 'human' aspects of managing genetic conditions. GSNV President Moira Rayner says, "The major focus of GSNV's work is to provide advocacy, education and peer support for people affected by genetic conditions.  We work in partnership with the Genetic Heath Services of Victoria and the Murdoch Childrens Research Institute to better the lives for people affected by rare conditions."  The public are invited to hear Moira Rayner, Anna Hickey and Tina Costanzo speak on Friday morning March 2nd as part of a Rare Disease Seminar hosted by the Genetic Support Network of Victoria (GSNV), to be held at the new Royal Children's Hospital.  The GSNV will present the findings of their survey into the top five issues for people affected by rare disease.  Anna Hickey, from the Australian Gorlin Syndrome Mutual Support Group and Tina Costanzo from the Prader Willi Syndrome Association of Victoria will present their own personal stories.  All are invited to stay on afterwards for morning tea.  For more information about this free seminar please go to the Rare Disease Website at http://www.rarediseaseday.org/ or contact the GSNV on info@gsnv.org.au or phone (03) 8341 6315. /news/2012/february/rare-disease-day.aspx /news/2012/february/rare-disease-day.aspx Thu, 16 February 2012 10:33:00 Simone Myers /news/2012/february/sunlight-link.aspx The study, which is published in the Journal of Allergy and Clinical Immunology, looked at data from over 7,600 Australian children and how rates of food allergy, eczema and asthma varied from the north, (Queensland),central (New South Wales) and south (Victoria and Tasmania) of the country.  The study found in the four to five year old age group, the children residing in the southern parts of Australia were more likely to have both food allergy and eczema.  In the eight to nine year old age group, the odds of having a peanut allergy were six times greater and the odds of having eczema were twice as great in the southernmost children, compared with those living in the north.  The study found no link between latitude and rates of asthma.    Lead researcher, A/Professor Katie Allen, says the study adds weight to the hypothesis that sunlight might play a role in the increasing prevalence of food allergy and eczema.  "This study has further highlighted the possible link between food allergies, eczema and where you live.  The results of our study provides further motivation for research into possible casual links into UV radiation and vitamin D levels in this disease group," she said.  "Investigating these links at a much finer level, by examining such things as temperature, levels of sunlight, as well as vitamin D in the blood, might provide more clues to the nature of these associations." /news/2012/february/sunlight-link.aspx /news/2012/february/sunlight-link.aspx Tue, 07 February 2012 14:11:00 Simone Myers /news/2012/january/genetic-conditions.aspx Mitochondrial disease is a serious genetic condition that affects the way the body coverts food into energy.  There are over 100 types of mitochondrial disease, and about one child born every week in Australia will develop a severe mitochondrial disorder in their lifetime; about half of them will die in childhood. Mitochondrial disorders are notoriously difficult to diagnose due to the multitude of genes and the highly variable symptoms across various organs. The current diagnostic process is an extremely invasive and expensive process for patients, and often doesn't result in a definitive diagnosis. While the next generation sequencing technology has proven successful in uncovering novel disease genes in a research setting, researchers wanted to see whether it could also play a functional role in diagnostics in a clinical setting. Researchers looked at 42 patients with mitochondrial disorders and sequenced the DNA of the mitochondrial genome, the 100 genes previously linked to mitochondrial disease, and over1000 additional genes that are known to play a role in mitochondrial biology. The study, which is published in Science Translational Medicine, found that using the technology 25 per cent of cases were immediately diagnosed; and a further 25 per cent of cases will be able to be diagnosed in the next few years as more genes are formally linked to disease. Lead researcher, Professor David Thorburn, from Murdoch Childrens Research Institute, said the rate of diagnosis was likely to significantly increase in the future and the technology will greatly improve their ability to diagnose some of the most complicated genetic disorders.  "New 'next generation' DNA sequencing technologies are transforming the way we do research on inherited diseases. However, it remains a real challenge to transfer these approaches from a research tool into methods that can be used efficiently by doctors trying to sort out if a patient's disease is due to a genetic condition," he said.    "Although not successful in every child, this new technology is a big advance that will allow us to speed up diagnosis for families to end their diagnostic odyssey.  It should mean that within the next few years we can diagnose most children with suspected mitochondrial disease within about a month using just a blood sample, instead of needing a muscle biopsy and taking months or years. "Our approach is also suitable for other complicated genetic conditions like epilepsy, deafness and some forms of heart disease."  Professor John Christodoulou, Director of the Western Sydney Genetics Program at The Children's Hospital, Westmead, said the study shows how this new technology will be useful for a clinical setting and could eventually make targeted treatments a reality for mitochondrial disease patients.  "The use of this technology will mean families can finally get off the diagnostic treadmill, which for some families can take years, with all that heartache and uncertainty for the families, and the discomfort for the patient who is subjected to multiple tests," Prof Christodoulou said. "Hopefully our discoveries will lead other doctors to test their patients with suspected mitochondrial disease. Then, as more individuals with these genetic mutations are identified, we will hopefully get a better correlation between specific mistakes in the genes and the severity of the disease for patients, enabling doctors to be more accurate when discussing prognosis with families. "It also gives more certainty about the potential genetic risks to other family members and allows them to consider their reproductive options more definitively." Australian Mitochondrial Disease Foundation (AMDF) president Dr Doug Lingard said the findings represent a huge step forward in transforming the diagnosis of mitochondrial disease, of which there are more than 100 known types. "Scientists only discovered in 1988 that mutations in mitochondrial DNA caused disease, so it's been a steep learning curve to find and develop effective diagnostic methods," Dr Lingard said. "This Australian breakthrough shows that combining world-leading research with the latest technology can make a real difference to patients and their families.  "It's particularly exciting because the AMDF has recently funded priority access at Royal Perth Hospital to one of Australia's first Next-Generation DNA Sequencing facilities, which will enable much faster, cheaper and more accurate diagnoses of mitochondrial disease for Australian patients." Dr Lingard and his wife Margie lost their seven-year-old son Alex to mitochondrial disease 28 years ago, when knowledge of the disease was scarce. Their daughter Rose also suddenly developed debilitating symptoms several years ago at the age of 20. "We waited over two decades for Alex's diagnosis, and had an agonising wait of many months for Rose to be diagnosed before doctors could manage her symptoms properly and she could come home from hospital," Dr Lingard said.  "Having a quick and simple test to diagnose mitochondrial disease would have saved much distress and despair.  However, while diagnosis may provide considerable relief and resolution for patients and their families, there is still no targeted treatment and no cure, so continued research is vital." /news/2012/january/genetic-conditions.aspx /news/2012/january/genetic-conditions.aspx Thu, 26 January 2012 00:00:00 Simone Myers /news/2012/january/ruth-bishop.aspx In 1973, Dr Bishop and her team at The Royal Children's Hospital were the first to discover that diarrhoea in children was caused by rotavirus.  Rotavirus is the leading cause of severe dehydrating diarrhoeal illness and death in children under five worldwide, claiming half a million children every year, mostly in developing countries.  Ruth also discovered the demonstration of protective immunity against severe disease by natural neonatal rotavirus infection. Since the discovery Dr Bishop has overseen the vaccine development at the Murdoch Childrens Research Institute, which is currently in clinical trials phase in New Zealand and Indonesia.  The world-first rotavirus vaccine candidate is specifically for newborns and its aim is to be available at a lower cost than others on the market, making it accessible in developing countries.  Current rotavirus vaccines are given to babies from six to eight weeks of age, which may leave newborn infants at risk of early infection and, in countries with limited health care access, may delay timely administration of the vaccine. The oral vaccine was shown to be well tolerated during phase one trials at the institute. Researchers are now investigating how effective the vaccine is at protecting against the disease and how long the protection lasts. The vaccine candidate is the culmination of almost four decades of research by Murdoch Childrens Research Institute, The Royal Children's Hospital and the University of Melbourne. Dr Bishop was selected for the award from a total of 76 nominations from 45 countries. The Prince Mahidol Award Foundation was established in commemoration of the centenary of the birth of His Royal Highness Prince Mahidol of Songkla, on January 1, 1992. The Foundation is under Royal Patronage, with Her Royal Highness Princess Maha Chakri Sirindhorn as president. The Foundation annually confers two Prince Mahidol Awards upon individual(s) or institutions(s), which have demonstrated outstanding and exemplary contributions to the advancement of the world's medical and public health services. /news/2012/january/ruth-bishop.aspx /news/2012/january/ruth-bishop.aspx Wed, 25 January 2012 14:35:00 Simone Myers /news/2012/january/brain-injuries.aspx The study, which is published online today in Paediatrics, is the first to systematically follow children from the time of their traumatic brain injury (TBI) to ten years post injury.  It showed that severe injury is associated with poorest outcome, but after three years, the gap between children with severe TBI and peers stabilises. Researchers examined 53 children 10 years after experiencing a TBI, studying the social and behavioural skills of children who had experienced a TBI between the ages of two and seven years of age.  Researchers found in the initial period after their brain injury, while the brain copes with the impact of injury and begins to recover - usually about three years - the children didn't make any developmental gains, however after this period they started to make age-appropriate developmental gains, right up until at least 10 years post insult.  Lead researcher, Professor Vicki Anderson, from Murdoch Childrens Research Institute, said the results are important because it queries the current viewpoint about children's development after brain injuries and shows children don't get further behind their peers.  "There is a clinical view that young children who suffer a brain injury get worse as time goes on, and that the severity of the head injury, dictates the outcome.  But in fact, what we found was this wasn't the case," Prof Anderson said. "The study questions this speculation that children 'grow into deficits' with time since injury.  Rather, it appears that, after a prolonged recovery period, these children gradually stabilise and begin to make some developmental gains, suggesting that even many years post insult, intervention may be effective and helpful." "Although this does not suggest that children "catch up" to peers, it does imply that the gap does not widen during this period."   /news/2012/january/brain-injuries.aspx /news/2012/january/brain-injuries.aspx Mon, 23 January 2012 15:27:00 Simone Myers /news/2012/january/fragile-x.aspx Fragile X syndrome is a genetic disorder caused by a faulty switch of an important gene called FMR1 which is located on the X chromosome. Fragile X syndrome is associated with a range of developmental, physical and behavioural problems and is the most common known cause of inherited developmental disability worldwide.  It is estimated that 1 in 130 females and 1 in 180 males carry the FXS gene and that 12 FXS carriers and one fully affected FXS child is born in Australia each week. Early identification and intervention improves outcomes for children with Fragile X syndrome but until now it has been difficult for doctors to diagnose the disorder until the age of three years or older. In a world-first, the researchers have shown that the new test can detect both the type and severity of symptoms in Fragile X syndrome with unparalleled accuracy in DNA samples from 154 females, with 18 of these having the 'faulty switch' in the FMR1 gene. Lead researcher, Dr David Godler, from Murdoch Childrens said that in the study the test was shown to be superior to others available in predicting developmental disability particularly in females, and that the discovery could pave the way for a simple, accurate and inexpensive test for Fragile X syndrome that could be used for population screening. "The test is especially advantageous for diagnosis and screening in females, because it can specifically and accurately identify those individuals who are expected to develop cognitive impairment and can therefore potentially identify those most likely to benefit from early intervention," Dr Godler said. John Kelleher, President of the Fragile X Association of Australia has welcomed the finding, saying the test has the potential to benefit thousands of Fragile X patients by providing sufferers and their families with earlier detection and intervention, leading to better treatment and improved outcomes. "This test has the potential to become one of the most powerful tools to be discovered this decade for accurate diagnosis of children with Fragile X syndrome. With it we may be able to test and treat affected individuals earlier on in their lives giving them the best chance to live to their full potential and to save parents the anguish of spending years searching for a diagnosis. The association has spent several years lobbying for the inclusion of FXS testing within the heel prick test and now Dr Godler and his associates have developed the technology." The novel test was developed by Murdoch Childrens researchers Dr David Godler and Dr Howard Slater in collaboration with Dr Danuta Loesch from the School of Psychological Science, La Trobe University. The work was supported by the Thrasher Research Fund and National Health and Medical Research Council Development grant. Larger studies are now underway internationally to further validate the findings. This work was published online today in the leading clinical laboratory journal Clinical Chemistry. /news/2012/january/fragile-x.aspx /news/2012/january/fragile-x.aspx Wed, 18 January 2012 13:01:00 Simone Myers /news/2011/november/portseapolo2012.aspx Murdoch Childrens would like to thank Guinot for their continued support of our events. Guinot have committed $140,000 in event sponsorship over the next three years to help support our research. By working with Guinot, we hope more Australians will learn about, and become supporters of, Murdoch Childrens. /news/2011/november/portseapolo2012.aspx /news/2011/november/portseapolo2012.aspx Sat, 14 January 2012 00:00:00