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FEATURE

FACE OF DNA IF EVERY face has a story to tell, Mark Barash's research has added a lot of description to that story. Barash, a Bond University Teaching Fellow, has taken a close-up look into how DNA influences facial appearance and its potential in forensic investigation. He took out third place for the research at the Golden Helix Research Competition in February, an inaugural event that attracted in excess of 50 entries from DNA researchers across more than 20 countries. “The research is focused on the identification of genetic markers responsible for individual variations in facial appearance, particularly pertaining to the shape and size of facial features, skin, eye and hair pigmentation, and also ancestry,” says Barash. “Genetics has a major influence on facial appearance, but we still don’t really understand the specific factors in DNA that are responsible for how we look – this was the basis of my research.” Barash developed an interest in the subject during a seven-year stint as a Forensic DNA Officer with the Israeli Police Force in Jerusalem. Mark Barash

“I performed forensic DNA analysis on hundreds of criminal cases, where the key aim was to identify a DNA profile from a crime scene sample and find a matching suspect’s profile. “However, many cases would come to a halt because current DNA analysis methods only work for comparison purposes, so the perpetrator couldn’t always be identified unless they were a previous offender. “I became very uncomfortable with the limitations this process presented and was ardent to find new tools to improve the method.” Barash made the leap to Bond University in 2010 to undertake his PhD in the field at the Faculty of Health Sciences and Medicine. He based his work on a sample of 600 which was developed into threedimensional images and underwent stringent analysis over a three and a half year period.

Professor Chris Del Mar

“Each image was analysed for 32 craniofacial landmarks, which provided a basis for the calculation of more than 100 different measurements,” says Barash. “Following this, each DNA sample was genotyped for approximately 6,500 DNA markers in more than 170 candidate genes potentially involved in craniofacial development.” The research is the most comprehensive of its kind, resulting in the identification of more than 150 DNA markers strongly associated with specific craniofacial features, as well as pigmentation and ancestry. The next step of Barash’s project will focus on predicting facial appearance from a DNA sample. “No previous research in this area has strictly worked with three-dimensional images or considered so many markers and measurements, probably because of the expense and meticulous adherence to technicalities it required,” says Barash. “The research can give forensic investigators an extraordinary advantage, enabling them to draw a ‘molecular portrait’ of the potential perpetrator from a small DNA sample left behind at a crime scene in the absence of suspect or witness evidence. “It can also provide an investigative lead in mass disaster victim identification and missing person cases." In addition to forensics, the data holds the potential to assist with prenatal medical diagnostics of craniofacial disorders and ancient DNA research. “My current PhD supervisor Associate Professor Lotti Tajouri has a passion for ancient Egypt and sees the potential for the work to paint a clearer description of ancient mummies,” says Barash. The data is currently being summarised and Barash anticipates publication by the end of the year. He will also share his results with the scientific community in November at the World Gene Convention in China.

Tamiflu on review TAMIFLU and Relenza are drugs stockpiled by governments worldwide in anticipation of an influenza pandemic, but are they effective in preventing complications from influenza? That was the question an international review team from The Cochrane Collaboration set out to answer six years ago. Professor Chris Del Mar, from Bond University’s Centre for Research in Evidence-Based Practice, was part of that team. Professor Del Mar, the Coordinating Editor for The Cochrane Collaboration’s Acute Respiratory Group, has assessed the effectiveness of the drugs through the analysis of more than 160,000 pages of pharmaceutical company trial clinical study reports with other researchers from Australia, Italy, Japan, the United Kingdom and the United States. The review concluded there was no good evidence to support claims that Tamiflu and Relenza reduce admissions to hospital or the complications of influenza.

Collaboration from obtaining a complete collection of randomised trials. “We realised, for Tamiflu alone, that less than half the trials had been published – a startling discovery since the drug’s global bill has been estimated at $10 billion,” says Professor Del Mar. “This led us to serving the US Food and Drug Administration with a Freedom of Information Act, which enabled us to obtain some data, and also led to the AllTrials.Net campaign that stipulates there should be an obligation to publish every trial.” In April last year, Tamiflu and Relenza manufacturers Roche and GlaxoSmithKline made their full internal reports available to The Cochrane Collaboration. The 20 Tamiflu and 26 Relenza trials involving 24,000 volunteer patients delivered mixed summaries about the effectiveness of these drugs in treating influenza.

The report has sent shockwaves throughout the health sector considering the Australian Government spent $192 million on stockpiling Tamiflu and Relenza as insurance against the swine influenza threat in 2009.

“We were able to support previous findings that Tamiflu and Relenza do reduce symptoms, but we found they only shorten the illness by about half a day compared to a placebo,” says Professor Del Mar. “We also couldn’t find any evidence that the drugs protect people from the complications of influenza which cause hospitalisation, such as pneumonia, which contradicts previous claims.”

“It’s certainly incited debate about whether it’s reckless or prudent to stockpile drugs for a pandemic that may happen at an unknown time,” says Professor Del Mar.

The review team showed the drugs cause nausea and vomiting, as well as headaches, psychiatric disturbances and renal events when Tamiflu was used in prevention trials.

Questions also have been raised about methods used to determine the effectiveness of drug treatments.

Professor Del Mar says the benefits and drawbacks of these drugs should be more carefully considered before prescription.

Pharmaceutical companies put up a four-year fight to prevent The Cochrane

“These drugs really aren’t magic in treating milder illnesses,” he says.

HSM Professor to lead cancer study group THE Multinational Association of Supportive Care in Cancer (MASCC) has welcomed Professor Liz Isenring of the Faculty of Health Sciences and Medicine as Chair of one of its key study groups.

The Nutrition and Cachexia Study Group, specialising in supportive care for cancer patients, will be overseen by Professor Isenring for the next three years. This appointment marks a significant achievement as it will be the first time an Australian dietician holds the post of Chair. Diligent research and communication are the cornerstones of Professor Isenring’s philosophy on patient care and services, which she brings to her new role. “I believe the greatest impact one can have in terms of improving the nutritional care for patients and their families is via research and helping to translate this evidence into improved patient services and outcomes,” says Professor Isenring. The work undertaken by the study group is now more important than ever, with cancer the primary cause for death in the country.