Research Profile for Patrinos George

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Department of Pharmacy
Research Activity
Pharmacogenomics, Personalized Medicine, Human Genetics, Genomics, Bioinformatics, Molecular Biology, Biotechnology, Databases
Our long-term goal is to identify the genes involved in differentially increasing Hb F levels upon HU treatment in groups of β-thalassemia patients, categorized based on the levels of Hb F levels induction upon HU treatment in order to: (a) provide insights as to which genes and regulatory pathways are involved in the differentially elevated Hb F levels in the two groups of patients and (b) lead to the identification of new protein factors, which bind to the γ-globin promoter or other regulatory regions in the human β-globin gene locus, and hence are involved in the up- or down-regulation of the γ-globin genes expression, which will initiate further studies and larger-scale clinical trials to develop alternative β-thalassemia therapeutics.
Similarly, we aim to identify putative pharmacogenetic markers to determine response to lithium treatment in bipolar disease patients.
Finally, we continue to pursue development of National/Ethnic genetic databases to document the vast genetic heterogeneity of various populations worldwide.
Research Infrastructure
Dr. George P. Patrinos (Assistant Professor, Group leader)
Dr. Marianna Georgitsi (post-doc)
Vassiliki Gantouna (undergraduate student)
ETHNOS National/Ethnic databases development suite
Research Activities
1. Pharmacogenomics of response to HU treatment in hemoglobinopathies patients,
2. Pharmacogenomics of response to lithium treatment in bipolar disease patients,
3. Developmental regulation of human fetal globin genes expression,
4. Development of National/Ethnic genetic databases.
1. Polymenidis Z, Patrinos GP. (2008). Towards a hybrid model for the cryopreservation of umbilical cord blood stem cells. Nature Rev Cancer 8: 823.
2. Chen Z, Luo HY, Basran RK, Hsu TH, Mang DW, Nuntakam L, Rosenfield CG, Patrinos GP, Hardison RC, Steinberg MH, Chui DH. (2008). A T>G transversion at nt –567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated Hb F. Mol Cell Biol, 28: 4386-4393.
3. Papachatzopoulou A, Kaimakis P, Menounos PG, Evangelakou P, Pourfarzad F, Grosveld FG, Patrinos GP. (2007). Increased fetal hemoglobin levels in β-thalassemia intermedia patients correlates with a mutation in 3’HS1. Am J Hematol, 82: 1005-1009.
4. Chen JM, Cooper DN, Chuzhanova N, Ferec C, Patrinos GP. (2007) Gene conversion: Mechanisms, evolution and human disease. Nature Rev Genet 8: 762-775.
5. van Baal S, Kaimakis P, Phommarinh M, Koumbi D, Cuppens H, Riccardino F, Macek M Jr, Scriver CR, Patrinos GP. (2007). FINDbase: A relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res, 35: D690-D695.
6. Patrinos GP. (2006). National and Ethnic mutation databases: Recording populations' genography. Hum Mutat, 27: 879-887.
7. Grosveld F, Rodriguez P, Meier N, Krpic S, Pourfarzad F, Papadopoulos P, Kolodziej K, Patrinos GP, Hostert A, Strouboulis J. (2005). Isolation and characterization of hematopoietic transcription factor complexes by in vivo biotinylation tagging and mass spectrometry. Ann N Y Acad Sci, 1054: 55-67.
8. Patrinos GP, Brookes A (2005). DNA, disease and databases: Disastrously deficient. Trends Genet, 21: 333-338.
9. Patrinos GP, de Krom M, de Boer E, Langeveld A, Imam AMA, Strouboulis J, de Laat W, Grosveld FG (2004). Multiple interactions between regulatory regions are required to stabilize an active chromatin hub. Genes Dev, 28: 1495-1509.
The group is in constant collaboration with the Erasmus University Medical Center (Rotterdam, the Netherlands), the University of Cagliari (Cagliari, Italy), the University of Athens, the University of Malta Medical School (Malta) and the Cyprus Institute of Neurology and Genetics (Nicosia, Cyprus).
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