Monthly Archives: November 2014

Smart Geelong Week 2014

Phew! What a week, Smart Geelong Research Week has been! For an early career researcher like myself, I had an embarrassment of riches to choose from, for inspiration during the program. And my penchant for ‘live tweeting’ when I attend such events, saw me in the front row, madly tip tapping on my tablet, so that the Geelong based folks who follow me on Twitter, could ‘see’ the proceedings.

On Monday, we had the launch with keynote speech, delivered Professor Terry Speed (Walter and Eliza Hall Institute, Melbourne) who is a recent Eureka Prize winner for science engagement. Introduced by Barwon Health CEO, David Ashbridge, Terry then gave an excellent and accessible talk to a large crowd on the topic of ‘Epigenetics’, which he defined as the ‘punctuation marks’ to allow the appropriate expression of physical characteristics for the ‘text’ of our genes in our DNA. Professor Frances Quirk, Head of Research, Barwon Health, then gave me the priceless networking opportunity (thank you!) to join the party taking Terry to dinner on the Pier.

Wednesday saw the Barwon Health Research Week Poster session and the first speech from my collaborator and new Deakin Medicine Chair of Orthopaedics, Professor Richard Page. Richard regaled us with his distant family history in Tasmania (involving the sly grog trade) as well as offering advice to newer researchers (always say ‘Yes’ and Innovate, don’t emulate).

Thursday saw the launch of the Inaugural Smart Geelong Network Harrison Lecture, named to honour pioneering Geelong innovator James Harrison, introduced by Addy Editor, Nick Papps. Harrison was a polymath, who educated himself at night school around his day job and savvy enough to recognise the potential of evaporative cooling whilst chemically cleaning his news printing die sets.

It was standing room only at the National Wool Museum & the Geelong innovators who spoke, Professor Saeid Nahavandi from the Deakin Centre for Intelligent Systems Research (CISR) and Mr Steve Atkiss, GM of the Deakin Carbon Nexus, gave fabulous insights into the ‘toys’ they had made, including robot movement simulators and carbon fibre Storm Trooper armour. Some of their staff and students were on hand with the more ‘portable’ toys to let us have a play!

Friday evening arrived and with it, the Smart Geelong Network Gala Dinner, and thank you to my colleague Dr Sarah Shigdar for shouting my ticket! It was good to see both federal politicians from Geelong, Hon Sarah Henderson MP and Hon Richard Marles MP, were able to get back from Canberra, for the evening. The guest of Honour was the Hon Barry Jones (one of my science heroes) who was there to present the inaugural Barry Jones Medal to Sue De Gilio, one of the founders of the Smart Geelong Network and a worthy winner. The other major prize of ‘Researcher of the Year’ went to newly promoted Professor Bronwyn Fox, leader of the Carbon Nexus project and an inspiration to all women in science and engineering.

My week didn’t finish until Saturday lunch time, after I took part in the Deakin 40 years celebration at the Geelong Gala day parade. Spurred on by our fearless leader, Professor Jane den Hollander, we waved our flags at the crowds lining the route. Surely, the good people of Geelong were bemused (or perhaps entertained?) by the incongruous sight of academics in full robes and regalia, playing volleyball with a giant inflatable world, with their boss? I certainly relished the opportunity to disrupt the stereotype that we are elitist and stuffy boffins, scared of leaving the ‘ivory tower’. Jane shouted us to an impromptu coffee afterwards and I got to introduce her to my husband and kids. I also got to chat to Saeid about his three adult children as he scrolled through his Facebook photo roll. Those labelled as ‘Smart Geelong’ have much in common with the rest of the people of Geelong – we are humans.

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No(cebo) holidays from Quack-busting

I have recently returned from an idyllic family holiday on a tropical island in Fiji. We has a lovely time (although it took me at least 5 days to wind down from a busy and sometimes stressful year) and naturally gravitated towards chatting to other families with young children, while we were there.

We met a few lovely couples with kids…and each of the young families had medical conditions which made my heart sore to hear of. One father had Multiple Sclerosis and the baby of another family had Cystic Fibrosis. As a mother of a disabled child, I did not belabour any points with these folks or offer advice as they seemed reconciled to these conditions and happy to be on holidays relaxing.

However, the third family we met had a story that made me very angry. The young father got speaking to my husband about a ‘diagnosis’ he had received which purported to be a genetic mutation in the MTHFR gene. My husband dobbed me in as a medical researcher straight away (cheers!) and I was dragged off my sun lounger into the infinity pool to continue the discussion. It quickly became clear in conversation, that this man had chronic back pain and had resorted to alternative medicine after his GP had failed to take him seriously (and hence refer him to proper pain clinics in his local area).

He had been ‘referred’ to a naturopath from other CAM practitioner, who promptly used a cheek swab to get DNA for a genetic screening test. He had been told the results and that he had ‘compound hetero mutations’ in his MTHFR gene.

This gene encodes for the enzyme Methylenetetrahydrofolate reductase (MTHFR) which plays a central role in folate and homocysteine metabolism by catalyzing the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the primary circulatory form of folate. This precursor is then used in homocysteine remethylation to methionine.

I told him that I would do some research on the topic overnight (as the resort Wifi was better than my local fraudband at home) and get back to him with a better explanation of his ‘condition’ the next day. I also contacted the specialist chronic pain anaesthetist and my quack-busting drinking buddy @mickvagg for advice on this genetic test…as I was starting to suspect a pseudoscience wheeze, used to sell nutritional supplements. I also contacted @doc_andy_w for GWS pain clinic advice and @DrChromo for the clinical genetics angle. I love my tweeps! They are always happy to help out!

Mick’s response and the results of my research here and here confirmed my fears…that tests for common SNP polymorphism variants were being used to sell supplements to this man. He admitted to taking a ridiculous amount of such he had been ‘prescribed’ by the naturopath. He also reported that his chronic pain problems had not resolved as a result of ‘treatment’

I made these notes for him, which I sent via email:

Dear Cxxxx,

Just some notes I made from my online research after speaking to you about MTHFR gene polymorphisms.

Anti-Quackery article from a reliable source related to MTHFR gene polymorphisms.
http://www.bloomberg.com/news/2012-12-21/autism-cures-promised-by-dna-testers-belied-by-regulators.html

Nocebo effect: http://en.m.wikipedia.org/wiki/Nocebo << in your case, you have been told by a non specialist (who's goal is to sell you nutritional supplements) that you have a genetic disorder that has been correlated with various illnesses. Correlation does not equal Causation in medical research. But the neurological effects of believing something is very wrong with you, can damage your health.

Sciencey MTHFR gene info: (PhD in genetics and Biochem helpful to fully understand this article. Not really lay-person friendly) http://www.ncbi.nlm.nih.gov/books/NBK6561/ << Points to note from this book chapter: Only 50 people ever have been diagnosed with the 'true' mutation which knocks out the enzyme completely. Most people with the more mild mutations have 2 copies which work at some level (just not quite as fabulous as those without these mild mutations).

Genetic counselling services NSW: http://www.genetics.edu.au/Genetics-Services/genetic-counselling-services << These guys will be able to explain the whole thing very well (and test you properly & will not try to sell you anything) but it may take a while to get in to see them, as they tend to deal with kids with life threatening illness like Cystic Fibrosis. You will also have to ask your GP for a referral to these kinds of clinics.

Westmead Hospital pain clinic contact info: http://www.wslhd.health.nsw.gov.au/Back-to-Life—Pain-Management-Program/Contact-Information

Westmead Hospital Pain Clinic referral online form (get your GP to fill it out during an appt) http://www.wslhd.health.nsw.gov.au/Back-to-Life—Pain-Management-Program/Referral <<It is possible to self refer to this clinic, but it would look better coming from your GP

Good Luck!

Cheers, Mel

My incandescent rage stemmed from the fact this man was worried he had a genetic condition that he had passed onto his two gorgeous children. None of the implications of having a genetic ‘condition’ had been explained to him by a qualified genetic counsellor, he had just been baldly told the results, sold some supplements and left to Dr Google for advice (which when I checked, was heavy on convincing looking US based quacks and light on any real info on this ‘condition’…probably as the reduced functioning of the enzyme leading to raised plasma levels of homocysteine, had been associated with several common diseases but no causal links had been firmly established….as I checked PubMed on the topic too!)

The man was profusely grateful that I had taken the time to check this out on my holiday and sheepishly admitted to being angry at himself for being taken for a chump (he was a salesman by profession).

I explained to him that even if he has a pair of mutations in his MTHFR gene that are deleterious…that due to basic gamete haploid genetics, he had NOT passed on the condition to his children…and the only way they would currently have it, was if his wife also carried similar mutations on the same gene in BOTH of her copies (or they had already suffered De novo mutations in the same gene). I also said the chances of either of these being the case were fairly slim, but if he was still worried, the Clinical Genetics Service at his local teaching hospital would be able to test the entire family and also explain what is currently known in the medical literature about the SNPs for MTHFR and any health implications (from an unbiased perspective…as opposed to a CAM business plan angle).

He wrote to me soon after we had returned to Australia to tell me he had already been to his GP to demand the referrals I had recommended he ask for, for his on going pain condition and to the local Clinical Genetic Service.

I hope he gets sorted soon!IMG_3059.JPG

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