University of Melbourne

What Marita Cheng did next.

Posted by

0


You’re a brilliant young computer science student who was awarded Young Australian of the Year in 2012 after you founded an international organisation to get girls interested in high tech careers.

You’ve got a swag of scholarships and fellowships under your belt and you’re in demand as a guest speaker in Australia and overseas.

Young Australian of the Year, Marita Cheng assembling a robot at Melbourne University last year.

You’re about to graduate from the University of Melbourne with a double degree in mechatronics and computer science after seven years on the books.

Do you: a) take one of the hundreds of job offers that have come your way in the past two years; b) leapfrog into a career in academia, courtesy of your high profile; or c) start a company that makes bionic arms for people with disabilities?

Option C, says 24-year-old Robogals founder Marita Cheng, who’s preparing to throw herself full-time into 2Mar Robotics, the start-up she launched in April, when she graduates at the end of the year.

Her vision is to produce a bionic arm which can be used as daily living aid for people with limited hand movement, due to spinal injuries and disabilities such as multiple sclerosis and Parkinson’s Disease.  The arm can be mounted in multiple places around the home, including the kitchen and bathroom, and is controlled by iPhone.

“I really wanted to make a robot that was useful to people and changed people’s lives and this was a way I could do it,” Cheng says.

The idea drew enthusiastic feedback from the Spinal Injuries Association when first mooted, Cheng says: “People thought it was a dream come true.”

There are 20,000 people with spinal injuries in Australia and around three million worldwide. As well as offering people more independence, investing in robotic devices makes sound economic sense, Cheng says.

Her arm may reduce the amount of human assistance some people need to perform basic tasks and save thousands in carer costs, she says.

Cheng’s first group of users will begin testing a prototype in their homes next month and she hopes to have the arm available commercially by April next year.

Pricing is yet to be determined but Cheng hopes to collaborate with not-for-profits which can provide grant funding to suitable recipients.

“I feel really lucky, I know what I’m doing next year…I’m looking forward to it, I can spend more time on this,” Cheng says.

Striking out on her own, rather than fast tracking into an international firm, seems a logical progression for someone who cites Steve Jobs as an inspiration.

“I got so many job offers last year, it was a real dream but I always knew I wanted to start a company,” Cheng says.

“I have energy and I like to put that energy into something…I like having a vision and making it happen in real life.”

Jamie Evans is the academic whose suggestion Cheng do something to encourage young girls into engineering led her to found Robogals in 2008. The organisation, which sends students into schools to teach girls robotics, has 17 chapters in four countries and has run workshops for 11,000 girls.

Now the head of electrical and computer systems engineering at Monash University, Evans says Cheng’s segue into the start-up world is no surprise.

“She is a quintessential entrepreneur – someone who is not interested in finding reasons that things can’t be done but rather believing that something is important and making it happen, regardless of the limited resources at her disposal,” Evans says.

“She likes to set her own agenda and, given the amazing things she has already achieved, I could not imagine her taking a graduate job in a big company. I see her as a serial entrepreneur moving from one venture to another over the years.”

Genetic Test for Autism Refuted.

Posted by

0


A team of Australian scientists claimed to have developed a genetic test that predicts a person’s risk of developing autism spectrum disorder (ASD) with 72 percent accuracy. Writing in Molecular Psychiatry, the team led by Stan Skafidis and Carlos Pantelis from the University of Melbourne said that their panel of 237 genetic markers could “correctly classify ASD from non-ASD individuals” and “may provide a tool for screening at birth or during infancy to provide an index of at-risk status.”

But a new study, led by Benjamin Neale from Massachusetts General Hospital, suggests that those claims were overblown. Neale’s team replicated the Australian group’s research in a larger sample, and found that the proposed panel of markers did not accurately predict ASDs.

“The claims in the original manuscript were quite bold. If they were true, it really would have been quite a major advance for the field, with serious ramifications for patients and other risk populations,” said Neale. “I think it’s important to ensure that this kind of work is of the highest quality.”

“This is a convincing refutation that calls into question the original results on specific technical grounds, rather than simply a non-replication that leaves a puzzling discrepancy between the two studies,” said Leonid Kruglyak, a geneticist from the University of California, Los Angeles, who was not involved in either study.

In 2012, Skafidis’s team compared the genes of 732 European people with ASD from the Autism Genetic Resource Exchange database, with those of 123 neurotypical people from a different cohort. They searched for single nucleotide polymorphisms (SNPs) that were linked to ASD, especially those in genes with roles in relevant cellular pathways.

They eventually settled on 237 SNPs in 146 genes, which they used to create a classifier for predicting ASD risk. When they tested the classifier on 243 cases and 42 controls from the same databases, it correctly predicted ASD with an accuracy of 85.6 percent.

The team then tested the classifier on an independent group of people—525 with ASD taken from the Simons Foundation Autism Research Initiative and 2,620 controls from the Wellcome Trust Birth Cohort. It identified the ASD cases with an accuracy of 71.7 percent.

But to other geneticists, these results seemed too good to be true. They implied that this small set of SNPs can explain around 11 percent of the variation in ASD risk—an unprecedented figure for any psychiatric condition. If the set truly had such strong effects, genome-wide association studies (GWAS) should have identified those SNPs by now—and they had not. It will likely take a sample of hundreds of thousands of people to find SNPs with such predictive power, as has been the case for other traits like height. “The magnitude of the study you need is dramatically larger than what was presented,” said Neale.

Neale wrote to Skafidis’s team asking for the full list of 237 SNPs, but did not receive it. (Skafidis told The Scientist that they offered the code that they used to generate their results, which should have been even better.) As such, they focused on the 30 most important SNPs, which were detailed in the published paper.

By comparing 5,417 cases and 5,417 controls from the Psychiatric Genomics Consortium, Neale’s team found that none of the 30 SNPs were significantly associated with ASD risk. The researchers also combined the SNPs into a classifier, using methods detailed in the original paper, and tested it on 4,623 cases and 4,623 controls from the same group. Again, the set failed to predict ASDs any better than chance. Finally, they also showed that the cellular pathways which the Australian team identified are not significantly associated with ASDs. The team’s results were published as a letter to the editor on 22 October, also in Molecular Psychiatry.

Several factors could explain the differences between the two studies. The Melbourne team initially tested the accuracy of their risk classifier on the same group of people whom they used to identify their SNP set. This is bad practice. “To appropriately assess the accuracy of a classifier, the sample which is used to develop it must be fully distinct from the sample on which it is tested,” said Kruglyak.

The Australian researchers also drew their cases and controls from separate populations with subtly different ethnic compositions. The SNPs they identified could have reflected reflect random ancestral differences between the two groups, rather than meaningful differences in ASD risk. Daniel Geschwind from the University of California, Los Angeles, made the same argument in a letter regarding Skafidis’s paper, which was published in the same journal this April.

Kruglyak added a third possible explanation: “batch effects, in which cases and controls are genotyped at different times and on different technology platforms,” he proposed. This problem also plagued a similar recently-retracted paper, which identified a panel of SNPs that could supposedly predict longevity.

But Skafidis said that Neale’s team may have come to different conclusions because the group did not use the full set of SNPs, nor the code that was provided. His team has submitted a response to the new study, which is in revision with Molecular Psychiatry (and does list the full set of 237 SNPs).

Meanwhile, Neale emphasized that other research into the genetics of autism are yielding stronger results. Several studies have identified loss-of-function mutations, and differences in the number of copies of certain genes, that are linked to ASD risk. Promising GWAS results have been presented at conferences and are making their way into published papers. “Autism genetics shouldn’t be tarnished by science that hasn’t been robustly proven,” he said. “There are successes beginning to emerge, and that’s really exciting and important.”

Menopausal symptoms more troublesome for cancer survivors.

Posted by

0


Recent data suggest that the severity of menopausal symptoms tends to be worse in women who survive cancer compared with other women. However, psychological and social quality of life measures were better among cancer survivors, researchers wrote.

“The reason for this difference in emotional well-being is not known but may be attributable to the better social and psychological support associated with a cancer diagnosis compared with that ofmenopause,” Jennifer L. Marino, MPH, PhD, of the department of obstetrics and gynecology at the University of Melbourne in Australia, and colleagues wrote.

The researchers measured differences in symptoms, severity, impact on quality of life and sexual function between cancer survivors and non-cancer patients at The Menopause Symptoms After Cancer Clinic.

The researchers recorded cancer survivors’ (n=934) and non-cancer patients’ (n=155) menopausal symptoms using the Greene Climacteric Scale; past-week symptoms using the Functional Assessment of Cancer Therapy breast cancer subscale and endocrine symptom

Subscale; and sexual symptoms using Fallowfield’s Sexual Activity Questionnaire.

The majority of patients were previously diagnosed with breast cancer (82%), while a smaller proportion was diagnosed with gynecological cancer (10.5%), or hematologic and colorectal malignancies (7.5%).

According to data, cancer survivors were more likely to be severely affected by vasomotor symptoms such as hot flushes and night sweats (OR=1.71; 95% CI, 1.06-2.74) and reported more frequent (6 vs. 3.1 in 24 hours;P<.001) and more severe (P=.008) hot flushes, compared with non-cancer patients.

 “Seventy-nine percent of cancer survivors and 61% of non-cancer participants reported current severe vasomotor symptoms. Thirty-six percent of cancer survivors and 23% of non-cancer participants scored in excess of the upper bound of the published reference range for vasomotor symptoms,” researchers wrote.

Conversely, cancer survivors demonstrated less psychological and somatic symptoms compared with non-cancer patients (P<.001). Further, they reported better quality of life. However, there were no statistically significant variations in physical or functional well-being, gynecologic symptom severity or sexual function, researchers wrote.

“Both expected and surprising, these results highlight that all menopausal women, including cancer survivors, need effective treatment options for their hot flashes and sexual symptoms,” Margery Gass, MD, executive director of the North American Menopause Society, said in a press release.

PERSPECTIVE

 

JoAnn E. Manson

  • A burgeoning number of women worldwide are both cancer survivors and entering menopause. It is clearly a clinical challenge to treat menopausal symptoms in women with a history of cancer because many are not candidates for estrogen therapy. The study by Marino and colleagues indicates that cancer survivors may have a higher prevalence and severity of vasomotor symptoms than women without a history of cancer. The findings highlight the importance of evaluating cancer survivors for the presence of menopausal symptoms, assessing their needs for treatment and discussing available treatment options. Additional research in this field and an expanded arsenal of nonhormonal treatment options for menopausal symptoms will be essential to improve the clinical care of this growing patient population. In this regard, the recent approval by the FDA of a nonhormonal treatment for vasomotor symptoms is a step in the right direction.
  • JoAnn E. Manson, MD, DrPH, NCMP
  • Past-president of the North American Menopause Society
    Endocrinologist and professor of medicine, Harvard Medical School and Brigham and Women’s Hospital
    Chief of Preventive Medicine, Brigham and Women’s Hospital

 

Source: Endocrine Today

New test predicts risk for Autism.

Posted by

0


A team of Australian researchers, led by University of Melbourne has developed a genetic test that is able to predict the risk of developing Autism Spectrum Disorder, ASD.

Lead researcher Professor Stan Skafidas, Director of the Centre for Neural Engineering at the University of Melbourne said the test could be used to assess the risk for developing the disorder.
 
“This test could assist in the early detection of the condition in babies and children and help in the early management of those who become diagnosed,” he said.
 
“It would be particularly relevant for families who have a history of Autism or related conditions such as Asperger’s Syndrome,” he said.

Autism affects around one in 150 births and is characterized by abnormal social interaction, impaired communication and repetitive behaviours.

The test correctly predicted ASD with more than 70 per cent accuracy in people of central European descent. Ongoing validation tests are continuing including the development of accurate testing for other ethnic groups.

Clinical neuropsychologist, Dr Renee Testa from the University of Melbourne and Monash University, said the test would allow clinicians to provide early interventions that may reduce behavioural and cognitive difficulties that children and adults with ASD experience.
 
“Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families,” she said.

A genetic cause has been long sought with many genes implicated in the condition, but no single gene has been adequate for determining risk.
 
Using US data from 3,346 individuals with ASD and 4,165 of their relatives from Autism Genetic Resource Exchange (AGRE) and Simons Foundation Autism Research Initiative (SFARI), the researchers identified 237 genetic markers (SNPs) in 146 genes and related cellular pathways that either contribute to or protect an individual from developing ASD.

Senior author Professor Christos Pantelis of the Melbourne Neuropsychiatry Centre at the University of Melbourne and Melbourne Health said the discovery of the combination of contributing and protective gene markers and their interaction had helped to develop a very promising predictive ASD test.

The test is based on measuring both genetic markers of risk and protection for ASD. The risk markers increase the score on the genetic test, while the protective markers decrease the score. The higher the overall score, the higher the individual risk.

“This has been a multidisciplinary team effort with expertise across fields providing new ways of investigating this complex condition,” Professor Pantelis said.

The study was undertaken in collaboration with Professor Ian Everall, Cato Chair in Psychiatry and Dr Gursharan Chana from the University of Melbourne and Melbourne Health, and Dr Daniela Zantomio from Austin Health.

The next step is to further assess the accuracy of the test by monitoring children who are not yet diagnosed over an extended study. 

The study has been published in the journal Molecular Psychiatry.

Source: Science Alert

One step closer to ‘Mad Cow’ test

A simple blood test for Creutzfeldt-Jakob Disease and Mad Cow disease is a step closer, following a breakthrough by medical researchers at the University of Melbourne.

Using newly available genetic sequencing scientists discovered cells infected with prions (the infectious agent responsible for these diseases) release particles which contain easily recognised ‘signature genes’.

Associate Professor Andrew Hill — from the Department of Biochemistry and Molecular Biology at the Bio21 Institute — said these particles travel in the blood stream, making a diagnostic blood test a possibility.

“This might provide a way to screen people who have spent time in the UK, who currently face restrictions on their ability to donate blood,” he said.

“With a simple blood test nurses could deem a prospective donor’s blood as healthy, with the potential to significantly boost critical blood stocks.”

Mad Cow disease was linked to the deaths of nearly 200 people in Great Britain who consumed meat from infected animals in the late 1980s.

Since 2000, the Australia Red Cross Blood Service has not accepted blood from anybody who lived in the UK for more than six months between 1980 and 1996, or who received a blood transfusion in the UK after 1980.

The research is published in this week’s Oxford University Press Nucleic Acids Research journal.

Lead author Dr Shayne Bellingham said the breakthrough might also help detect other human neurodegenerative diseases, such as Alzheimer’s and Parkinson’s.

“This is an exciting new field where we can test for conditions in the brain and throughout the body, without being invasive,” he said.

The researchers’ genetic testing focused on a form of cell discharge called exosomes.

If exosomes were infected with prions (the pathogen that causes Creutzfeldt-Jakob Disease and Bovine Spongiform Encephalopathy, commonly known as Mad Cow Disease) they were found to also carry a specific signature of small genes called microRNA’s.

The research was undertaken at the University of Melbourne, with assistance from the Mental Health Research Institute of Victoria, the National Health and Medical Research Council and the Australian Research Council.

Source: Science Alert

Early bionic eye lets patient see.

Posted by

1


In a major development, Bionic Vision Australia researchers have successfully performed the first implantation of an early prototype bionic eye with 24 electrodes.

Ms Dianne Ashworth has profound vision loss due to retinitis pigmentosa, an inherited condition. She has now received what she calls a ‘pre-bionic eye’ implant that enables her to experience some vision. A passionate technology fan, Ms Ashworth was motivated to make a contribution to the bionic eye research program.

After years of hard work and planning, Ms Ashworth’s implant was switched on last month at the Bionics Institute, while researchers held their breaths in the next room, observing via video link.

“I didn’t know what to expect, but all of a sudden, I could see a little flash…it was amazing. Every time there was stimulation there was a different shape that appeared in front of my eye,” Ms Ashworth said.

Professor Emeritus David Penington AC, Chairman of Bionic Vision Australia said: “These results have fulfilled our best expectations, giving us confidence that with further development we can achieve useful vision. Much still needs to be done in using the current implant to ‘build’ images for Ms Ashworth. The next big step will be when we commence implants of the full devices.”

Professor Anthony Burkitt, Director of Bionic Vision Australia and Professor of Engineering at the University of Melbourne said: “This outcome is a strong example of what a multi-disciplinary research team can achieve. Funding from the Australian Government was critical in reaching this important milestone. The Bionics Institute and the surgeons at the Centre for Eye Research Australia played a critical role in reaching this point.”

Professor Rob Shepherd, Director of the Bionics Institute and a member of the Medical Bionics Department at the University of Melbourne, led the team in designing, building and testing this early prototype to ensure its safety and efficacy for human implantation. Cochlear technology supported aspects of the project.

Dr Penny Allen, a specialist surgeon at the Centre for Eye Research Australia, led a surgical team to implant the prototype at the Royal Victorian Eye and Ear Hospital.

“This is a world first – we implanted a device in this position behind the retina, demonstrating the viability of our approach. Every stage of the procedure was planned and tested, so I felt very confident going into theatre,” Dr Allen said.

The implant is only switched on and stimulated after the eye has recovered fully from the effects of surgery. The next phase of this work involves testing various levels of electrical stimulation with Ms Ashworth.

“We are working with Ms Ashworth to to determine exactly what she sees each time the retina is stimulated using a purpose built laboratory at the Bionics Institute. The team is looking for consistency of shapes, brightness, size and location of flashes to determine how the brain interprets this information.

“Having this unique information will allow us to maximise our technology as it evolves through 2013 and 2014,” Professor Shepherd said.

How it works

This early prototype consists of a retinal implant with 24 electrodes. A small lead wire extends from the back of the eye to a connector behind the ear. An external system is connected to this unit in the laboratory, allowing researchers to stimulate the implant in a controlled manner in order to study the flashes of light. Feedback from Ms Ashworth will allow researchers to develop a vision processor so that images can be built using flashes of light. This early prototype does not incorporate an external camera – yet. This is planned for the next stage of development and testing.

Researchers continue development and testing of the wide-view implant with 98 electrodes and the high- acuity implant with 1024 electrodes. Patient tests are planned for these devices in due course.

About Bionic Vision Australia

Bionic Vision Australia is a national consortium of researchers from the Bionics Institute, Centre for Eye Research Australia, NICTA, the University of Melbourne and the University of New South Wales.

The National Vision Research Institute, the Royal Victorian Eye and Ear Hospital and the University of Western Sydney are project partners.

The project brings together a cross-disciplinary group of world-leading experts in the fields of ophthalmology, biomedical engineering, electrical engineering and materials science, neuroscience, vision science, psychophysics, wireless integrated-circuit design, and surgical, preclinical and clinical practice.

This research is funded by a $42 million grant over four years from the Australian Research Council (ARC) through its Special Research Initiative (SRI) in Bionic Vision Science and Technology.

Source: Science Alert

Screening halves breast cancer deaths.

Posted by

0


Women who undergo screening halve their risk of dying from breast cancer, a new study from the University of Melbourne has found.

The study, published in Cancer Epidemiology, Biomarkers and Prevention is the largest of its kind in Australia and one of the largest in the world. It followed about 4,000 women in a study of the BreastScreen program in Western Australia.

University of Melbourne Research Fellow Dr Carolyn Nickson and colleagues from the Melbourne School of Population Health said the findings reaffirmed the importance and efficacy of mammography.

The study focused on women aged 50-69 years, who are in the target age range for screening. It included 427 cases where women had died from breast cancer and 3,650 control women who were still alive when the other women died.

The research team compared screening attendance between the two groups and found screening was much lower among women who had died from breast cancer, a finding that is consistent with a similar study from South Australia and with numerous studies from around the world. Comparison with similar studies showed an average estimate of a 49 per cent reduced risk of dying.

Some other studies including studies from Australia claim that screening doesn’t reduce risk of dying from breast cancer. However, these studies do not compare outcomes for individual women.

“Sound research methods have been used in this study. I believe it is time to move on from the debate about whether screening reduces mortality and to instead direct research resources to help improve the program for women who choose to use it,” Dr Nickson said.

“It is important that Australian women have accurate information about the pros and cons of participating in BreastScreen. The findings of this study may help women decide whether to participate.”

“Early detection is the key to early treatment and the free BreastScreen program is the best health service available to detect breast cancers earlier in women aged 50-69 years.”

Source: Science Alert