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Best Abstract Award

Jeroen received award at EURenOmics

Jeroen EURenOmics 13 May 2017
Jeroen de Baaij has been awarded with the Best Abstract Award of the annual EURenOmics meeting in Berlin, Germany. During the meeting Jeroen presented our team's work  "A Heterozygous de novo Mutation in SLC41A1 Causes Hypomagnesemia and Renal Magnesium Wasting". His presentation was enthusiastically received by the clinical, genetical and translational researchers that are part of this successful European network.

Jeroen presented a three-year-old patient that was identified with tetanic convulsions caused by severe hypomagnesemia and hypocalcemia. Our team and our European colleagues identified a heterozygous de novo mutation in SLC41A1 that are causative for hypomagnesemia and renal magnesium wasting. These findings demonstrate the essential role of SLC41A1 in the maintenance of body magnesium balance.

The meeting in Berlin was the final meeting of the EURenOmics consortium, which created the largest cohorts of rare kidney disease patients in Europa. Using comprehensive data sets from exome and whole-genome sequencing, genome-wide association studies, renal transcriptomic profiling, miRNomic and proteomic screens and immunological findings in different body fluids, many succeses were celebrated over the last five years. The work of Jeroen has benefited from this trans-European network and we look forward to continue these collaborations in the future.

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