Prof. Gianpiero Cavalleri leads the Human Genetic Variation Research (HGVR) Group at RCSI. With developments in DNA sequencing technology it is now possible to sequence complete genomes in a couple of days for relatively low cost. As the community of geneticists sequences more and more genomes, we appreciate the amount of genetic variation that exists in the human population. This variation plays a crucial role in shaping human health and performance. The HGVR group at RCSI is working to improve our understanding of the nature, extent and geographic distribution of human genetic variation. In this context, the group has ongoing projects in the following areas:

Medical and clinical genomics:

We are focused on improving the clinical value of genomic testing in the clinic, with ongoing projects in epilepsy and renal disease.  Working with European Partners via the EpiPGX Consortium, we have led the discovery of multiple clinically relevant pharmacogenomic tests. We have pioneered the application of next generation sequencing technology in the adult epilepsy clinic in Ireland, and via the Epilepsy Lighthouse Project, are connecting patient genomes with electronic health record systems.

 click to learn more about the Epilepsy Lighthouse Project 

 

We are translating our experience from the epilepsy setting to the renal clinic. We are working with clinicians at Beaumont Hospital, the National Centre for Kidney Transplantation, to better understand how genomic testing can be most efficiently and effectively applied to improve patient outcomes.

Population genomics:

In collaboration with the Irish Genealogical Society, we are running the Irish DNA Atlas, a project that is seeking to inform on Irish population structure and history from a genomic perspective. We produced the first fine scale genetic map of the country, which has illustrated remarkable structure that correlates with historical influences.

 

 

The clustering of individuals with Irish and British ancestry based solely on genetics. Shown are 30 clusters identified by fineStructure from 2,103 Irish and British individuals. Image from Gilbert et al, Scientific Reports  2017

 

 

 

 

 

 

 

 

 

 

 

We are interested in population structure across the Himalaya and other high altitude regions, and have illustrated how genes mirror geography in indigenous Himalayan populations.

 

 

     

 

Himalayan and surrounding regions. Images from Cole et al, BMC Genomics 2017

 

 

 

 

 

 

 

 

 

Evolutionary biology

We see the deficiency of oxygen associated with high altitude as one of the strongest ongoing forces of natural selection in the human population, and have contributed to the identification of one of the strongest signals of natural selection detected in the human genome to date.

 

 

A genome-wide allelic differentiation scan that compares Tibetan residents at 3,200–3,500 m in Yunnan Province, China with HapMap Han samples. Image from Beall et al, PNAS 2010