#HealthHack Science Day at the MCRI
Last week a tour was conducted through the facilities at the Murdoch Childrens Research Institute (MCRI), and I was happily invited to tag along as a representative of our little team at the Research Bazaar! The tour was organised by Dr Marguerite Evans-Galea (Maggie), a scientist specialising in neurogenetic diseases, for the winning team members of #HealthHack 2014, an initiative connecting medical researchers with software engineers to solve research problems.
The tour was focussed around some of the facilities and people involved in genetic disorder research, genome sequencing and gene therapies, a fascinating and highly complex field. Identifying genes responsible for genetic disorders and developing targeted treatments for those disorders is a mammoth task, but it looks like they have it well in hand.
The first port of call was the Translational Genomics Facility (a facility within the collaborative Melbourne Genomics Alliance), which holds some very impressive next-generation DNA sequencing equipment. The HiSeq 4000, worth a cool $1.8 million dollars, can carry out a full genomic sequence of up to 6 genetic samples in less than 3.5 days using a patterned flow cell technology, and outputs a whopping 4TB of data per run! They must have some hefty data storage capabilities at the MCRI! If not, they can always talk to Data Services here at Research Platforms Services :)
Image: Dr Stefanie Eggers showing off the HiSeq 4000.
We were then treated to a presentation by George Charalambous from Curve Tomorrow, a six year old innovation company that has a digital health partnership with MCRI. Their mission? To create products that have a positive impact on society. Amongst other things, the team look at harnessing established technologies such as Microsoft Kinect, Google Glass and Oculus Rift for medical applications that involve motion tracking, and for simulation training (such as CPR training). They have also developed a number of iPad apps, including P.E.E.R.S (Pediatric Evaluation of Emotion, Relationships and Socialisation), which can be used by clinicians to diagnose and evaluate autism in young children, by, for example, testing their ability to match a written emotion to a facial expression in a relaxed, gamified way.
Images: The PEERS iPad app, and a wristband that tracks muscle twitches.
Next up was Dean Phelan, a PhD candidate studying novel genes associated with cardiomyopathy. Dean is looking at methods of identifying causal genes by reprogramming patient skin cells into induced pluripotent stem cells (iPS cells) and then differentiating them into specialised heart cells for disease modelling and drug treatment screening. Did you know that differentiated heart cells start beating together spontaneously in a petri dish? I didn’t either! Luckily enough we got to take a look through an optical microscope in the cardiomyopathy lab to see for ourselves.
Image: Dean Phelan with his Petri Dish loving differentiated heart cells.
One of Dr Maggie Galea’s PhD candidates, Sze Hwee Ong, gave us a great overview of her research looking into cell and gene therapy treatments for Friedreich ataxia, a neurodegenerative disease that causes progressive damage to the nervous system.
In the BLC (Bruce Lefroy Centre) Lab, we met Greta Gillies, who showed us her technique for extracting DNA out of blood samples for further analysis. It was surprisingly similar in principle to the strawberry DNA extraction experiment I remember doing as a kid. We also saw some of the freezers used for the long term storage of tissue and blood samples, and were introduced to the concept of immortalising cell lines.
Image: Greta Gillies speaking to the tour group in the BLC lab.
And last but not least we met Kate Pope, a registered nurse and Associate Genetic Counsellor. She has the weighty task of working with kids with genetic disorders and their families, providing them with information and getting their consent for exploratory procedures aimed at identifying the genes responsible for their disorders, such as epilepsy. This may involve taking skin and even brain tissue samples for analysis and genetic sequencing. Dr Maggie Evans-Galea spoke of the powerful moments when Kate is able to make a phone call and break the news that the responsible gene has been identified, allowing for better and more targeted treatments for the patient.
All in all it was a fantastic and eye opening experience, but I feel we only really touched the surface of what goes on at the Murdoch Children’s Research Institute.
If you would like to learn more, Dr Marguerite Evans-Galea can be contacted via marguerite.galea@mcri.edu.au and tweeted at @MVEG001
