Mouse Phenomics centre stage at Human Genome Meeting

Thursday 30 May 2013
Dr. Bertram presenting at the conference.

Dr Edward Bertram of the Australian Phenomics Facility, ANU was an invited speaker at the joint conference of the Human Genome meeting and International Congress of Genetics in Singapore in April. Entitled ‘Genetics and Genomics of Global Health and Sustainability' this meeting explored the genetics and genomics of human disease, cellular and gene therapies, personalised medicine, animal models, comparative genomics, and advanced technologies. Government policy and the management of a genome centred bioeconomy were also major discussion points. In the symposium of 'Mammalian Genetics' Dr Bertram presented the significant mouse resources available through the Australian Phenomics Network partners including access to the Missense Mutation Library as a resource to understand the function of human disease-associated genes and the endeavours of the International Mouse Phenotyping Consortium. 

One of the highlights of the meeting was a plenary lecture from Professor Allan Bradley, a former director of the Wellcome Trust Sanger Institute and now CSO of Kymab, a monoclonal antibody biopharmaceutical company. Bradley presented his work on the Kymouse: a series of transgenic human antibody mouse strains to generate therapeutic antibodies. These strains are constructed using a proprietary ES cell targeted insertion technology resulting in a chimeric human-mouse heavy chain and light chain loci and produce normal immunoglobulin levels, with a normal and functional B-cell compartment. The mice respond to antigen challenges with appropriate class switching and the chimeric human antibodies are matured in vivo through normal somatic hypermutation and affinity maturation processes. These transgenic mouse strains are currently being used for discovery, development and commercialisation on antibody-based medicines.

Professor Michael Snyder from Stanford University discussed the potential of personalised medicine through a study in which he predicted type 2 diabetes in himself.  Professor Synder sequenced his own genome and then blood transcriptome at regular intervals over the year and looking for changes duration infections. This data has been made publically accessible. The research, published in March last year, “Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes”, showed that he had an increased risk for type 2 diabetes, even though he did not know of anyone in his family who had the condition.  Being able to detect early gave him time and incentive to make changes to his diet and lifestyle to manage the risk. The access to mouse single nucleotide variants (such as those banked in the Missense Mutation Library) will be useful in understanding the genetic variation seen in this study.


For further information please visit these websites:

Human Genome meeting and International Congress of Genetics –

International Mouse Phenotyping Consortium -

Professor Allan Bradley -

Professor Michael Snyder –

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