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Large-scale exome-sequencing identified rare variants which might explain part of the missing heritability for coronary artery disease

In close collaboration with several national and international colleagues members of the IIEG conducted large-scale exome-sequencing in thousands of patients with coronary artery disease and healthy controls. Three papers have been published in the last three months in the prestigious journals NEJM and Nature.

First, we reported that rare mutations disrupting APOC3 function were associated with lower levels of plasma triglycerides and APOC3. Carriers of these mutations were found to have a reduced risk of coronary heart disease.

Second, we described naturally occurring rare loss-of-function mutations in NPC1L1, a drug target for lowering LDL-cholesterol, which were found to be associated with reduced plasma LDL cholesterol levels and a reduced risk of coronary heart disease. Interestingly, human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.

Third, we identified rare mutations in APOA5 gene which confer a more than two-fold risk for myocardial infarction.

http://www.nejm.org/doi/full/10.1056/NEJMoa1307095

http://www.nejm.org/doi/full/10.1056/NEJMoa1405386

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature13917.html

„Universitäres Herzzentrum Lübeck“ (UHZL) newly founded.

Since February 2015 the Medizinische Klinik II (director: Prof. Holger Thiele), the Klinik für Herz- und thorakale Gefäßchirurgie
(director: Prof. Hans-H. Sievers), and the Institut für Integrative und Experimentelle Genomik (IIEG) (director: Prof. Jeanette Erdmann) are united under one roof as the „Universitäres Herzzentrum Lübeck“ (UHZL).

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This new foundation will enable closer collaborations not only between the clinicians but also between the clinicians and the research groups at the IIEG. Such very close collaborations are neccessary for translational research from bench to bedside.
In February 2016 a Symposium will be organized to introduce and celebrate the UHZL.

More infos about the Symposium will follow soon.

Second successful PhD candidate at the IIEG

Congratulations to Redouane who has very successfully defended his PhD thesis in Meknes, Marocco on Wednesday.

His thesis was a joint project between the IIEG and the Moulay Ismail University in Meknes, Marocco. The project was initially funded by the DAAD (Deutscher Akademischer Austauschdienst) within a programme for bi-nationally supervised doctoral degrees (so called sandwich-model) for excellent young students.

The aim of this programme is to promote doctoral degrees at the home university with integrated research phases in Germany. Within this programme Redouane´s doctoral degree was supervised both by Professor Mohieddine MOUMNI and Professor Jeanette ERDMANN from the IIEG as the host Institute.

First PhD thesis defended at the IIEG

Congratulations! Christina defended very sucessfully her PhD thesis about “Genome-wide association studies on coronary artery disease and beyond”.
She is the first PhD student officially affiliated with the IIEG! We are very happy that she will now work as a PostDoc at the IIEG! Hopefully for quite a while!

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