Dr. George Patrinos' interests include the molecular mechanism
involved in the transcriptional repression of the human γ-globin genes. A present
research focus is the functional study of a new mutation resulting in hereditary
persistence of foetal haemoglobin through a novel mechanism. This mutation is located
in the so-called γ-globin gene silencer, approximately 700 bp upstream of the
γ-globin gene transcriptional starting point.
Dr. Patrinos is also involved in the generation of means for high-throughput thalassaemia
diagnostics. In the same vein, he is also principal investigator and advisor/curator
of the HbVar database for haemoglobin variants and thalassaemia mutations, having
overseen the first and second rounds of the database update [in 2003 (Patrinos et
al. 2004) and 2005 (Giardine et al., submitted)]. Of particular interest to the
Ithanet project, the second round of updates involved the construction of XPRbase, a database on experimental protocols and methodology
for the identification of DNA alterations in the human globin genes.
Finally, Dr. Patrinos coordinates the construction and curation of five national
mutation frequency databases, specifically the Greek, Cypriot, Iranian, Serbian
and Lebanese databases, for the recording of underlying genetic heterogeneity in
these populations, and of a global database,
FINDbase, aimed at recording the genetic heterogeneity of inherited disorders
on a global scale.