GenNova, the population genetics program conducted from 2001 to 2003 at the European Academy Bolzano, had two main research axes:

Micros-Study  (Study of "microisolates" in South Tyrol)

Small founder populations with a long history of isolation are particularly suitable for gene-mapping studies due to the reduced genetic and environmental variability. The German- and the Ladin-speaking population of South Tyrol can be considered such an isolate because of their geographic situation in the Alps and their socio-cultural heritage.

© Udo Bernhart / NG-D

As a first step, criteria were prepared to define suitable sub-populations (microisolates) in South Tyrol. Subsequently, appropriate villages were selected based on historical information and local demography. Data from church records serve to reconstruct complete genealogies of current inhabitants of the microisolates, spanning about 16 generations. Voluntary study participants undergo a detailed  interview and a physical screening examination. A blood sample is taken for routine blood tests and for DNA extraction. The aim of this project is to study the genetic and environmental components and risk factors of common disorders such as cardiovascular disease, neuro-psychiatric disease and cancer.

POLYS-Study (Polymorphism study in South Tyrol)

The aim of this study is to compare all main valleys and microisolates in South Tyrol by using autosomal, mitochondrial, and Y-chromosome polymorphisms. Using linkage disequilibrium (LD = non-random distribution of allels at different loci), South Tyrolean microisolates are to be compared with other isolates from around the world (e.g. Sardinia, Finland) to establish  their suitability in mapping genes. 

Photos by Udo Bernhart courtesy of National Geographic Deutschland