18 June 2020

Purva Kulkarni, Postdoctoral Bioinformatician at the Translational Metabolic Laboratory (TML), Department of Laboratory Medicine has been awarded the Metabolomics Society Early Career Travel Award to present her work titled - Towards precision diagnostics: Untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

She will present a talk on this work during the virtual meeting of the Metabolomics Society organized for the year 2020. She is a part of the research theme Metabolic disorders and establishes her own group in bioinformatics of mass spectrometry based -omics data to improve rare disease diagnostics and therapy monitoring.

Related news items

Towards a better understanding of Leigh Syndrome pathology and intervention published in Brain

8 December 2021

Melissa van de Wal and colleagues recently published a comprehensive review in the journal Brain on how Ndufs4 knockout mouse models have been used to unravel the pathomechanism of Leigh Syndrome.

read more

New genetic defect links cell biology and protein glycosylation

10 November 2021

Peter Linders, Dirk Lefeber and Geert van den Bogaart together with international colleagues have recently reported on novel cell biological insights, by identifying a genetic disorder in syntaxin-5 which allowed to unravel a new mechanism regulating intracellular transportation.

read more

RIMLS awards call for nominations

19 October 2021

RIMLS awards several prizes to stimulate and honor our (young) researchers. Upcoming awards are Supervisor of the Year, Best Master Thesis, Best Publication, Best Image and more. Send your nominations now before 24 November 2021.

read more

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

22 September 2021

Christian Gilissen and colleagues published in Genetics in Medicine about their work guiding the application of short tandem repeat analysis in clinical exome sequencing.

read more

Young Investigator Award for Alex Garanto

16 September 2021

Alex Garanto has been honored with the 2021 Mary Ann Liebert, Inc. publishers Young Investigator Award

read more

Differences in the number of de novo mutations between individuals due to small family-specific effects and stochasticity

28 July 2021

Christian Gilissen and colleagues investigated whether there is a family-specific contribution to the number of de novo mutations in the DNA of offspring and published the results in the Genome Research.

read more