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Dr. Heiko Runz - HBIGS

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<strong>Dr</strong>. <strong>Heiko</strong> <strong>Runz</strong><br />

18/01/1975, Heidelberg<br />

Affiliation<br />

Institute of Human Genetics<br />

University of Heidelberg<br />

69120 Heidelberg, Germany<br />

Phone: +49-(0)6221-5639128<br />

Fax: +49-(0)6221-565080<br />

Email: <strong>Heiko</strong>.<strong>Runz</strong>@med.uni-heidelberg.de<br />

website<br />

http://www.klinikum.uni-heidelberg.de/index.php?id=105424&L=en<br />

Fields of Interest<br />

Cell biology of cholesterol metabolism and associated diseases; functional analysis of lysosomal<br />

storage disorders by advanced light-microscopy; identification of modifier genes for monogenetic<br />

lipid metabolic disorders.<br />

Curriculum Vitae<br />

2007-present Faculty member of the Molecular Medicine Partnership Unit (MMPU) at the<br />

University of Heidelberg and EMBL<br />

2007-present Junior Group Leader Molecular Metabolic Disease Unit, Institute of Human<br />

Genetics, University of Heidelberg<br />

2003 – 2005 Physician Scientist excellence programme, Institute of Human Genetics<br />

Heidelberg and EMBL<br />

since 2003 Specialization in Medical Genetics, Institute of Human Genetics, Heidelberg<br />

1999 – 2001 MD Thesis at ZMBH, University of Heidelberg<br />

1995 – 2002 Medical student at University of Heidelberg, Germany, Harvard University,<br />

Boston, USA, and Université Louis Pasteur, University of Strasbourg, France<br />

Publications (5 most recent)<br />

Gotthardt, D.*, <strong>Runz</strong>, H.*, Keitel, V., Fischer, Ch., et al. 2008. A mutation in the canalicular phospholipid<br />

transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Hepatology, in<br />

press; * contributed equally<br />

<strong>Runz</strong>, H., Dolle, D., Schlitter, A.M. and Zschocke, J. 2008. NPC-db, a Niemann-Pick Type C Disease Gene<br />

Variation Database. Hum. Mutat. 29: 345-350<br />

Haas, D., Morgenthaler, J., Lacbawan, F., Long, B., <strong>Runz</strong>, H., Garbade, S.F., Zschocke, J., Kelley, R.I.,<br />

Okun, J.G., Hoffmann, G.F. and Muenke, M. 2007. Abnormal sterol metabolism in holoprosencephaly:<br />

studies in cultured lymphoblasts. J. Med. Genetics 44: 298-305.<br />

<strong>Runz</strong>, H., Miura, K., Weiss, M. and Pepperkok, R. 2006. Sterols regulate ER-export dynamics of secretory<br />

cargo protein ts-O45-G. The EMBO Journal 25, 2953–2965.<br />

<strong>Runz</strong>, H., Rietdorf, J., Tomic, I., de Bernard, M., Beyreuther, K., Pepperkok, R. and Hartmann, T. 2002.<br />

Inhibition of intracellular cholesterol transport alters presenilin localization and APP processing in neuronal<br />

cells. J. Neuroscience 22: 1679-1689.


Honors<br />

since 2006 Excellence-PostDoc Scholarship, Landesstiftung Baden-Württemberg<br />

2003 – 2005 Young Investigator Award, Heidelberg School of Medicine<br />

1999 – 2002 Fellow of the Studienstiftung des Deutschen Volkes<br />

Currently funded projects<br />

• Excellence-PostDoc Scholarship, Landesstiftung Baden-Württemberg<br />

(„Funktionelle Charakterisierung neuer Kandidatengene im zellulären Cholesterinhaushalt“)<br />

• Ara Parseghian Medical Research Foundation (APMRF) Research Grant<br />

(“Identification and functional characterization of novel genes modifying NPC disease”)<br />

Experience in the supervision of doctoral candidates<br />

Partcipation in the EMBL International PhD Programme as member of the Molecular Medicine<br />

Partnership Unit (MMPU) between EMBL and University of Heidelberg<br />

Supervised dissertations (last 2 years)<br />

1. Till Meinhof (MD thesis 05/2006-05/2007)<br />

“Identifying novel genes regulating cellular cholesterol metabolism by functional RNAi-screening.”<br />

2. Luise Kern (PhD student since 11/2007)<br />

“Identification and functional characterization of novel genetic modifiers of Niemann Pick Type C<br />

disease.”<br />

3. Fabian Bartz (PhD student since 03/2008)<br />

“Characterization of the hypothetical protein 23n20 as a novel regulator of cellular cholesterol<br />

metabolism”

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