Pichler Irene Institute of Genetic Medicine Drususallee/Viale Druso, 1 39100 Bozen/Bolzano  Tel. +39 0471 055 512  Fax +39 0471 055 599  contact

Irene Pichler got her degree in Biology from the University of Innsbruck, Austria with a thesis on the regulation of expression of cellular surface proteins by HIV-1. She obtained her PhD from the University of Lübeck, Germany working on the genetics of Restless Legs Syndrome. She joined the institute at the very beginning in 2002. Her current main scientific interests are molecular genetic studies to detect linkage or association to particular chromosomal regions contributing to the susceptibility for common, complex genetic disorders, especially neurological diseases; she has been involved also in population genetics studies of the local populations.

Publications:

Daniela Grazio, Irene Pichler, Christian Fuchsberger, Francesca Zolezzi, Paolo Guarnieri, Herbert Heidegger, Arthur Scherer, Bruno Engl, Sergio Messini, Eduard Egarter-Vigl, Peter P. Pramstaller. Differential gene expression analysis of ovarian cancer in a population isolate. Eur J Gynaecol Oncol (in press).

Volpato CB, De Grandi A, Buffone E, Pichler I, Gebert U, Schifferle G, Schönhuber R, Pramstaller PP. Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC). Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 24.

Pichler I, Pramstaller PP. Restless Legs Syndrome: an update on genetics and future perspectives. Clin Genet. 2008 Apr;73(4):297-305.

Pattaro C, Marroni F, Riegler A, Mascalzoni D, Pichler I, Volpato CB, Dal Cero U, De Grandi A, Egger C, Eisendle A, Fuchsberger C, Gögele M, Pedrotti S, Pinggera GK, Stefanov SA, Vogl FD, Wiedermann CJ, Meitinger T, Pramstaller PP. The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives. BMC Med Genet. 2007 Jun 5;8:29

Marroni F, Pichler I, De Grandi A, Volpato Beu C, Vogl FD, Pinggera GK, Bailey-Wilson JE and Pramstaller PP. Population isolates in South Tyrol and their value for genetic dissection of complex diseases. Ann Hum Genet. 2006 Nov; 70(6):812-21.

Pichler I, Marroni F, Beu Volpato C, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP. Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. Am J Hum Genet. 2006 Oct;79(4):716-23.

Vogl FD, Pichler I, Adel S, Pinggera GK, Bracco S, De Grandi A, Beu Volpato C, Aridon P, Mayer T, Meitinger T, Klein C, Casari G and Pramstaller PP. Restless Legs Syndrome: Epidemiological and Clinico-Genetic Study in a South Tyrolean Population Isolate. Mov Disord. 2006 Aug;21(8):1189-95.

Pichler I, Mueller JC, Stefanov SA, De Grandi A, Volpato Beu C, Pinggera Gk, Mayr A, Ogriseg M, Ploner F, Meitinger T and Pramstaller PP. Genetic structure in contemporary South Tyrolean isolated populations revealed by the analysis of Y chromosome, mtDNA and Alu polymorphisms. Hum Biol 2006 Aug; 78(4):441-64.

Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C. Co-occurrence of restless legs syndrome and Parkin mutations in two families. Mov Disord. 2006 Feb;21(2):258-63.

Mueller JC, Lohmussaar E, Magi R, Remm M, Bettecken T, Lichtner P, Biskup S, Illig T, Pfeufer A, Luedemann J, Schreiber S, Pramstaller P, Pichler I, Romeo G, Gaddi A, Testa A, Wichmann HE, Metspalu A, Meitinger T. Linkage Disequilibrium Patterns and tagSNP Transferability among European Populations. Am J Hum Genet. 2005;76(3):387-98.

Speth C, Pichler I, Stockl G, Mair M, Dierich MP. Urokinase plasminogen activator receptor (uPAR; CD87) expression on monocytic cells and T cells is modulated by HIV-1 infection. Immunobiology. 1998 Jul;199(1):152-62.