10. February 2014 · Comments Off on Looking back at looking forward: ASHG 2013 · Categories: Conferences, Science · Tags: , ,

Wendy offers a retrospective on the forward-looking atmosphere at last year’s American Society of Human Genetics meeting, in Boston

Looking into the future is something I felt the Annual ASHG conference focused on more this year than last year. One man who certainly has form for looking into the future is the Dermatologist Rudolf Happle. In the eighties Happle predicted a number of genetic conditions would be mosaic and, following the advent of whole exome sequencing, he has turned out to be correct in his predictions so far. Therefore I was rather pleased to catch him as the opening speaker in a stimulating session on mosaicism chaired by Leslie Besecker and William Dobyns.

Happle introduced us to a new type of segmental mosaicism involving oligogenic inheritance. For me this was an excellent illustration that the skin, the most visible of our organs, can give us countless vital clues as to the aetiology of genetic disease, especially in complex situations such as mosaicism and that it may give us clues to genetic diseases resulting from oligogenic inheritance in the future.

As we identify more and more genes encoding chromatin modification enzymes underlying rare multiple congenital-anomaly syndromes, Hans Bjornsson’s talk on the use of a histone deacetylase inhibitor to treat the hippocampal phenotype of a mouse model of Kabuki syndrome was encouraging. This was, as he said, a proof of principle experiment, but undoubtedly gave hope for future treatment of individuals with mutations in genes encoding histone modification enzymes.

What a privilege it must be to put together the final plenary, however what pressure there must be to be one of only two people selecting the final speakers. This year, Jeff Murray and Andrew G. Clark came up trumps with a feast of omics. Aviv Regev from MIT presented an account of single cell transcriptomics in dendritic cells, illustrating startling variation between the behaviour of cells of the same type in the same conditions. Marc Vidal from Harvard caught everyone’s attention with his talk on interactomics and how detailed study of interactions, both on a gene and protein level, can help us further understand Mendelian diseases.

The question I walked away with was “How can Clinical Geneticists, and Molecular Geneticists work more closely with these ‘Omics’ ists?” For as Andrew Clark reminded us so well in his introduction, every gene is imbedded in a complex network that has many different possible sequelae and systems biology is going to play an important role in diagnostics in human genetics in the future.

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