To learn the latest genomic analytical tools for genetic diagnosis of rare neuromuscular disorders

Conclusions: 
The field of genetic diagnosis is rapidly changing with advances in technology and this does not appear to be slowing down. The resources, funding and primary aim of research at the Broad Institute creates an environment of breaking frontiers with rapid discoveries and advancements which entices the best scientists and bio-informaticians from around the world to join the team.  

1. The importance of data sharing (sharing resources and findings) to advance the field faster throughout the entire world – share and work together.
2. Broad philosophy: What do we think is possible, then strive to surpass this…
3. There is no canonical human exome/genome. It is natural variation that started the human genome project.
4. I learnt a number of great analysis strategies and filtering processes for genomic analysis, as well as the benefits of cloud based storage and analysis.
5. Collaborations: Strengthened existing and initiated new collaborations; a. MacArthur Lab at the Broad Institute. Working with people in person strengthens relationships for continued long distance collaboration, b. Lek Lab at Yale University, c. Beggs Lab, Boston Children’s Hospital, d. Bonnemann Group, NIH, e. Darja Wojtal - Program in Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Canada, f. Renata Ghallgher, Institute for Human Genetics, University of California, San Francisco
6. Papers; a. Broad collaborative paper on DMD, b. Broad collaborative paper on Kids Neuroscience Centre MPS cohort, c. Lek lab collaborative paper on TCAP, d. Lek lab collaborative paper on DMD
7. Studying rare disorders often sheds light on common mechanisms

Recommendations:

1. Bring massively parallel sequencing (MPS) into Medicare in Australia. To make this ground-breaking technology more readily available.
2. Enhance analysis for MPS data. It is just as important to be able to identify and decipher the disease-causing variants from the noise of this immense amount of data.
3. Genetic counselling and reporting. One of our biggest challenges is getting results back to families, as this is really under resourced in research-based diagnostic testing. This is not unique to Australia.
4. Functional genomics to ascertain which variants are truly disease causing (classify variants of uncertain pathogenicity) is just as important.
5. Maintain and build collaborations with the world-leaders in the field. Australia is never going to have the same amount of funding and resources as some of these US Institutes, so let’s reduce the double-up and make the most of their resources by working together. In Australia, we have collated really well phenotyped cohorts that they need for their studies.

Keywords: Genetic diagnosis, Muscle disease, Genomics, Analysis, Whole exome sequencing, Whole genome sequencing, RNA sequencing, Bio-Informatics