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The following news items are related to the research Mitochondrial diseases.
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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.

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.

Christian Gilissen appointed professor of Genome Bioinformatics

22 October 2021

Christian Gilissen has been appointed Professor of Genome Bioinformatics at the Radboudumc / Radboud University as of 1 October 2021.

Surprisingly dominant cause underlying type I congenital defect of glycosylation

21 October 2021

Alex Garanto, Melissa Bärenfänger, Mirian Janssen, and Dirk Lefeber published a new study, identifying a surprisingly dominant genetic cause underlying type I congenital defect of glycosylation with neuromusculoskeletal phenotypes.

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.

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.

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

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.

Sonlicromanol seems promising for certain cancers Khondrion announces publication in PLOS ONE of new research

13 July 2021

Khondrion announces publication in PLOS ONE of new research showing normalisation of prostate cancer stem cell mPGES-1 overexpression and inhibition of cancer spheroid growth by sonlicromanol’s active metabolite.

Newborn screening in sight through the discovery of novel disease biomarkers by new technique

8 July 2021

To identify new biomarkers that can be used in the newborn screening protocol, also known as the neonatal heel prick, Karlien Coene and colleagues joined forces with scientists at the Radboud University’s FELIX laser laboratory. They published their findings in The Journal of Clinical Investigation.

Biomarkers for pyridoxine-dependent epilepsy identified by untargeted metabolomics and infrared ion spectroscopy

24 June 2021

Karlien Coene, theme Metabolic Diseases, and colleagues published in the Journal of Clinical Investigation that untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Miniaturized microfluidic platform for automated epigenetic profiling

6 May 2021

Together with Fluidigm, a US-based company focusing on microfluidics, the team of Hendrik Marks publishes in Genome Research the development of a powerful plug and play ChIP-seq platform for minute amount of cells, such as embryonic specimens or small biopsies.

Medication for the body's malfunctioning energy system in the works

28 April 2021

Radboudumc’s spin-off company Khondrion is developing the promising drug sonlicromanol for treating energy metabolism diseases. Founder of the company Jan Smeitink, theme metabolic disorders, explains.

Clara van Karnebeek receives a European grant for CHARLIE project

28 April 2021

Clara van Karnebeek has received a European grant of 1.88 million Euros for the CHARLIE consortium: an international collaboration to use genetic and stem cell technology to develop new treatments for the neurometabolic diseases GA1 and PDE.

New way of diagnostics detects 'undetectable' genetic defects

15 April 2021

Research provides guidance for global application

ADP/ATP carrier inhibitor characteristics identified

3 March 2021

Tom Schirris and colleagues, published an article entitled “Characterization of drug-induced human mitochondrial ADP/ATP carrier inhibition” in Theranostics.

RIMLS online award ceremony proudly presenting the winners

13 January 2021

In this special webinar of the RIMLS New Year Celebration, scientific director René Bindels reviewed 2020 and looked forward to 2021. But more importantly a number of researchers received prizes in the traditional RIMLS awards ceremony. 

Werner Koopman received funding from the European Joint Programme on Rare Diseases

22 December 2020

In a large consortium, Werner Koopman will apply a cell-based reprogramming strategy for drug repositioning in patients with mitochondrial DNA-associated Leigh Syndrome.

Radboudumc signs collaboration agreement to develop personalized diagnostics

16 December 2020

Radboudumc together with scientists from Erasmus MC has signed a license agreement with Sebia, world leader in multiple myeloma diagnostics.

Detecting more rare diseases through analysis in three dimensions contributed by Radboudumc, BioProdict and Vartion

19 November 2020

Martijn Huijnen, will lead an European Regional Development Fund (EFRO) project entitled "Diagnostics-in-3D".

Cell spreading is hard work Bioenergetics of stem cell mechanoresponses in Biomaterials

12 November 2020

The study of Bioenergetics of stem cell mechanoresponses, published in Biomaterials is carried out in a collaboration between Werner Koopman, theme Metabolic Diseases, and colleagues from the Radboud University and California Institute of Technology.

28 New genes identified as cause of severe developmental disorders

14 October 2020

Christian Gilissen & Laurens van de Wiel with GeneDx and the Wellcome Sanger Institute, have published a major study in the scientific journal Nature, showing the need to bring data together. 

Werner Koopman 25 years at Radboudumc celebrating online

8 July 2020

Werner Koopman completed his 25 years at Radboudumc. Biochemistry sent him a cake at home and celebrated this special moment during COVID-19 in a unique way.

Experts on metabolic diseases still an unknown major problem...

1 July 2020

Six Dutch UMCs and a patient association contribute to treating and solving this major, often unknown, problem. Timely detection of metabolic diseases is vital. Therefore, Radboudumc is also part of the consortium “United for Metabolic Diseases”.

Martinus van Marum Award for Tom Schirris

23 June 2020

​The award intends to stimulate young researchers and is based on their PhD thesis and follow-up research.

Metabolomics Society Early Career Travel Award for Purva Kulkarni

18 June 2020

Purva Kulkarni 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.

Metakids-UMD grant for Purva Kulkarni

18 June 2020

The Metakids foundation has awarded 220.575 Euro to support the establishment of a multi-omics biomarker platform within the United for Metabolic Disease (UMD) consortium.

Cooling strategies for COVID-19 health personnel to attentuate PPE-induced heat strain

11 June 2020

Radboudumc develops infographic with cooling information

MetaDome highly accessed

7 May 2020

MetaDome was recently recognized as one of the most accessed articles of 2018-2019 in Human Mutation. The MetaDome was a project developed by Laurens van de Wiel, Christian Gilissen, and Gert Vriend.

Martinus van Marum prize for Tom Schirris

3 April 2020

This award of € 12,500 is intended as an incentive prize for researchers who have obtained their PhD degree in 2015 or later. The jury, consisting of members of the Society, came to this decision unanimously.

Khondrion begins study on optimal dosage of new drug

10 February 2020

Pharmaceutical company Khondrion, a spin-off from Radboudumc, has taken another important step in the development of its drug sonlicromanol. The first patients have used the drug as part of a phase 2b study, which focuses on determining the optimum dose and efficacy.

RIMLS PhD retreat registration is open

23 January 2020

Yearly, RIMLS PhD candidates gather for the two-day PhD Retreat. Apart from the science, this event is highly valued for the opportunity to meet and get to know fellow PhD candidates during the social activities. Early bird registration and abstract submission deadline: 4 March 2020.

Stofwisselkracht grant for Daan Panneman and Richard Rodenburg

16 January 2020

Daan Panneman & Richard Rodenburg have been awarded a Stofwisselkracht grant for their proposal “CRISPR/Cas9 knock-in complementation in fibroblasts of mitochondrial disease patients”. Together with Omar Tutakhel & Jan Smeitink they will investigate the possibility of using CRISPR/Cas9 knock-in.

Newly appointed Junior Principal Clinicians

3 December 2019

The appointed junior Principal Clinician for RIMLS are Heidi Zweers-van Essen and Jenneke Leentjens. These caregivers are at the forefront of renewing patient care and take the lead in the development and realization of the Radboudumc vision.

RIMLS awards call for nominations

26 November 2019

RIMLS awards several prizes to stimulate and honor our (young) researchers. Please find here an overview of the upcoming awards. Deadline 12 December 2019.

RIMLS 25 years jubilee festival The Future is Yesterday

3 October 2019

Together with more than 250 colleagues and alumni we celebrated 25 years of research into the molecular mechanisms of disease. During this exciting and informal event, we not only took a trip down memory lane, but also looked ahead to the next 25 years and beyond…...

New mitochondrial DNA maintenance disease uncovered

1 October 2019

The group of Hans Spelbrink, theme Mitochondrial diseases, and colleagues, has identified and characterized mutations in the mtDNA maintenance gene SSBP1 in families with optic atrophy and foveopathy. This paper is now online in The Journal of Clinical Investigation.

Front cover Human Mutation

21 August 2019

The MetaDome web server build to interpret genetic variants based on genetic tolerance and homologous protein domains is featured on the Cover of Human Mutation. MetaDome was developed by Laurens van de Wiel, Coos Baakman, Daan Gilissen, Joris Veltman, Gert Vriend and Christian Gilissen,

First results Nijmegen Exercise Study during the Four Days Marches

25 July 2019

During the 103rd edition of the International Four Days Marches Nijmegen, Maria Hopman’s research team carried out two studies.

Handbook of biomarkers and precision medicine a new publication by Alain van Gool

12 July 2019

Alain van Gool published a new handbook on biomarkers and applications in (pre)clinical drug development for precision medicine.

Dr. C.J. Roos prize for Hanne Rooijackers

9 May 2019

Hanne Rooijackers, theme Mitochondrial diseases, has been awarded the Dr. C.J. Roos prize for her thesis 'Impaired awareness of hypoglycaemia in type 1 diabetes. The role of lactate.'

Call for RIMLS Junior Researcher 2020

24 March 2019

In 2020 funding will be made available for 8 RIMLS Junior Researcher projects. The call for these PhD grants is now open.

Proudly presenting new theme leaders

20 March 2019

It is our pleasure to introduce the new leaders of the themes Mitochondrial diseases, Reconstructive and regenerative medicine and Vascular damage.

Grant to study mitochondrial morphofunction in Parkinson’s disease

14 March 2019

Werner Koopman, theme Mitochondrial diseases, received 400,000 euro as a member of the PD-MitoQUANT consortium. The latter is an EU-funded Innovative Medicines Initiative research project that will improve our understanding of Parkinson’s so that better treatments can be developed in the future.

A personal touch of Heidi Zweers

24 February 2019

In order to promote interaction amongst colleagues within RIMLS, we have a ‘personal touch’ series setting employees in the spotlight. A light-hearted manner to learn about the colleagues you know and those you don’t! This week: Heidi Zweers.

Mitochondrial DNA replication factors in mtRNA metabolism

5 February 2019

Hans Spelbrink, theme Mitochondrial diseases, published in Nucleic Acids Research, that two factors in mitochondrial DNA replication, namely the mtDNA helicase Twinkle and the mtDNA single-stranded DNA-binding protein mtSSB, play an important role in mitochondrial RNA metabolism.

COPAL reveals remodeling of mitochondrial protein complexes in Barth syndrome

21 January 2019

Martijn Huijnen, theme Mitochondrial diseases, and colleagues developed COmplexome Profiling ALignment (COPAL) to systematically asses the effect of Barth syndome on mitochondrial protein complexes. They published their findings in Bioinformatics.

RIMLS awards festival Twelve winners

16 January 2019

In 5 categories RIMLS young researchers received an award and bonus during the New Year's drinks. See all photo's.

A personal touch of Elianne Bulthuis

6 December 2018

In order to promote interaction amongst colleagues within RIMLS, we have a ‘personal touch’ series setting employees in the spotlight. A light-hearted manner to learn about the colleagues you know and those you don’t! This week: Elianne Bulthuis

Bastiaan de Galan appointed as associated professor

13 November 2018

It is our pleasure to announce the appointment of Bastiaan de Galan, theme Mitochondrial diseases, as associate professor.