The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. We will promote collection, documentation and free distribution of genomic variation information and associated clinical variations and endeavor to foster the development of the necessary methodology and informatics.
To enhance human health through identification and characterization of changes in the genome that lead to susceptibility to illness. To this end, to collate the genomic information necessary for molecular diagnosis, research on basic mechanisms and design of treatments of human ailments.
"Human Mutation" is the Society journal. Members will receive a reduced subscription to the journal if they choose to subscribe. Click here to go to the journal homepage.
The Society holds two scientific meetings per year. One as a satellite to either the HUGO (Human Genome Organisation) annual meeting or the ESHG (European Society of Human Genetics) annual meeting and one meeting is a satellite to the ASHG (American Society of Human Genetics annual meeting. The meetings are themed and speakers are invited as well as a call for abstracts at large. Past themes include: copy number variation, pathogenic or not?, pharmacogenomics, new DNA sequencing technologies, and genotype to pheontype relationships.
The Society holds its Annual General Meeting of the members after the scientific meeting that is a satellite of the ASHG.
The Society often takes out an Exhibitor's booth at the American & European Societies of Human Genetics annual meetings and sometimes the ESHG meeting.