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PGXOME SIGNED

A pharmacogenomic exploration of adverse drug reactions in epilepsy

Total Cost €

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EC-Contrib. €

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Partnership

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Project "PGXOME" data sheet

The following table provides information about the project.

Coordinator
UNIVERSITAIR MEDISCH CENTRUM UTRECHT 

Organization address
address: HEIDELBERGLAAN 100
city: UTRECHT
postcode: 3584 CX
website: www.umcutrecht.nl

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country Netherlands [NL]
 Project website https://www.umcutrecht.nl/en/Research/Other-research/Center-for-Molecular-Medicine/Section-Genetics/Koeleman
 Total cost 82˙799 €
 EC max contribution 82˙799 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2016
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2017
 Duration (year-month-day) from 2017-09-01   to  2018-08-31

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITAIR MEDISCH CENTRUM UTRECHT NL (UTRECHT) coordinator 82˙799.00

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 Project objective

Epilepsy is a common disease characterized by recurrent seizures affecting 50 million people worldwide. For most people with epilepsy, long term treatment with antiepilepileptic drugs (AEDs) are necessary and 40% do not respond to the first line of AED, leading to a lifelong odyssey towards effective treatment. Diagnosis is the only predictor of which drug will work best however it is a poor predictor and there is a need for improved biomarkers. AEDs carry a considerable risk for adverse drug reactions (ADRs). ADRs can be minimized by careful titration towards therapeutic dose however idiosyncratic ADRs, particularly cutaneous adverse reactions, have been shown to have a genetic predisposition. However, despite the relative success of GWAS to identify predictors of hypersensitivity there are few other predictors of some more common ADRs. The applicant is aligned with large international consortia such as EpiPGX, the International League Against Epilepsy (ILAE) Complex Genetics Consortium and the the Canadian Pharmacogenetic Network for Drug Safety (CPNDS) who have amassed a collection of over 15,000 epilepsy cases with phenotype and genotype data. Further, over 2000 samples have whole exome sequence data available. This has provided a medium to investigate the genetic architecture of ADRs and a resource to replicate novel significant findings. This fellowship proposes to move beyond traditional GWAS into new territory for epilepsy pharmacogenomics by exploring the contribution of polygenic risk and rare variants. The aim of this fellowship proposal is to identify clinically useful genetic markers of adverse reactions to AEDs to the growing number of prognostic tests for clinicians to prescribe optimal treatment targeted to each individual patient and improve medication safety in epilepsy.

 Publications

year authors and title journal last update
List of publications.
2018 Mark McCormack, Hongsheng Gui, Andrés Ingason, Doug Speed, Galen E.B. Wright, Eunice J. Zhang, Rodrigo Secolin, Clarissa Yasuda, Maxwell Kwok, Stefan Wolking, Felicitas Becker, Sarah Rau, Andreja Avbersek, Kristin Heggeli, Costin Leu, Chantal Depondt, Graeme J. Sills, Anthony G. Marson, Pauls Auce, Martin J. Brodie, Ben Francis, Michael R. Johnson, Bobby P.C. Koeleman, Pasquale Striano, Antonietta Coppola, Federico Zara, Wolfram S. Kunz, Josemir W. Sander, Holger Lerche, Karl Martin Klein, Sarah Weckhuysen, Martin Krenn, Lárus J. Gudmundsson, Kári Stefánsson, Roland Krause, Neil Shear, Colin J.D. Ross, Norman Delanty, Munir Pirmohamed, Bruce C. Carleton, Fernando Cendes, Iscia Lopes-Cendes, Wei-ping Liao, Terence J. O\'Brien, Sanjay M. Sisodiya, Stacey Cherny, Patrick Kwan, Larry Baum, Gianpiero L. Cavalleri
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
published pages: e332-e341, ISSN: 0028-3878, DOI: 10.1212/WNL.0000000000004853
Neurology 90/4 2019-06-11
2018 Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel, Cristina E Niturad, Julia Knaus, Carolien De Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero-López, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann-Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D Coombs, Christopher A Reid, Pasquale Striano, Hande Caglayan, Auli Siren, Kate Everett, Rikke S Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S Kunz, Yvonne G Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria S Vari, Dorothée Kasteleijn-Nolst Trenité, Betul Baykan, Ugur Ozbek, Nerses Bebek, Karl M Klein, Felix Rosenow, Dang K Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta-Walti, Graeme J Sills, Pauls Auce, Ben Francis, Michael R Johnson, Anthony G Marson, Bianca Berghuis, Josemir W Sander, Andreja Avbersek, Mark McCormack, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M Arfan Ikram, André G Uitterlinden, Giuliano Avanzini, Stephanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, Jose M Serratosa, Bobby P C Koeleman, Aarno Palotie, Anna-Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel, Cristina E Niturad, Julia Knaus, Carolien De Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero-López, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann-Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D Coombs, Christopher A Reid, Pasquale Striano, Hande Caglayan, Auli Siren, Kate Everett, Rikke S Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S Kunz, Yvonne G Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria S Vari, Dorothée Kasteleijn-Nolst Trenité, Betul Baykan, Ugur Ozbek, Nerses Bebek, Karl M Klein, Felix Rosenow, Dang K Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta-Walti, Graeme J Sills, Pauls Auce, Ben Francis, Michael R Johnson, Anthony G Marson, Bianca Berghuis, Josemir W Sander, Andreja Avbersek, Mark McCormack, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M Arfan Ikram, André G Uitterlinden, Giuliano Avanzini, Stephanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, Jose M Serratosa, Bobby P C Koeleman, Aarno Palotie, Anna-Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Edoardo Ferlazzo, Carlo di Bonaventura, Angela La Neve, Paolo Tinuper, Francesca Bisulli, Aglaia Vignoli, Giuseppe Capovilla, Giovanni Crichiutti, Antonio Gambardella, Vincenzo Belcastro, Amedeo Bianchi, Destina Yalçın, Gulsen Dizdarer, Kezban Arslan, Zuhal Yapıcı, Demet Kuşcu, Costin Leu, Kristin Heggeli, Joseph Willis, Sarah R Langley, Andrea Jorgensen, Prashant Srivastava, Sarah Rau, Christian Hengsbach, Anja C.M. Sonsma
Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study
published pages: 699-708, ISSN: 1474-4422, DOI: 10.1016/S1474-4422(18)30215-1
The Lancet Neurology 17/8 2019-06-11

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