Research Activities

The Golden Helix Foundation is involved in interdisciplinary research activities that span across the fields of Pharmacogenomics, Genome informatics and Public Health Genomics.

In the Pharmacogenomics field, the Euro-PGx project, coordinated by the Golden Helix Foundation, involves 26 European populations and aims to (a) determine the population-specific allele frequencies of pharmacogenomics variants to optimise medication choice and dose and minimize adverse reactions by genotyping 1,936 pharmacogenomic variants in 231 absorption, distribution, metabolism and excretion–toxicity-related pharmacogenes, which would assist in prioritizing medication selection in participating developing countries and, (b) develop off-the-shelf solutions for pharmacogenomic testing in participating developing countries.

In the Genome Informatics discipline, the Golden Helix Foundation has been actively engaged, since 2003, in the development of new or the update of existing National/Ethnic Genetic databases for several populations, using the newly upgraded ETHNOS software. As a result, a large number of National Genetic databases, based on the data warehouse principle and pre-existing guidelines were developed, that have been assigned to senior human geneticists in the corresponding populations in order to coordinate their curation and stimulate data enrichment and expansion. Research activities of the Golden Helix Foundation in genome informatics have received funding from 2 European projects (FP6 EuroGenTest and FP7 SERBORDISInn), funded by the European Commission.

Furthermore, the Golden Helix Foundation, through its Regional Centers in the Middle East (Al-Ain, UAE) and Asia-Pacific (Kuala-Lumpur, Malaysia) and in close collaboration with local academics, undertakes research projects in the field of Public Health Genomics. Such projects aim to address the level of awareness of healthcare professionals and the opinion of the key stakeholders and policy makers over Genomic Medicine and the pace of implementation of genomics into mainstream medical practice. Also, since 2013, the Golden Helix Foundation is successfully engaged to assess the cost-effectiveness of genome-guided treatment modalities in developing countries, with tangible results in Croatia and Serbia. These activities have received funding from the U-PGx H2020 European project.

Lastly, the Golden Helix Foundation coordinates the activities of the Genomic Medicine Alliance, a global academic research network, which aims to build and strengthen collaborative ties between academics, researchers, regulators and those members of the general public interested in genomic medicine. The GMA activities are focusing in particular on developing countries and low-resource environments.