Towards a better understanding of Leigh Syndrome pathology and intervention published in Brain8 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 glycosylation10 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.
Surprisingly dominant cause underlying type I congenital defect of glycosylation21 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.
Differences in the number of de novo mutations between individuals due to small family-specific effects and stochasticity28 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 research13 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 technique8 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 spectroscopy24 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 profiling6 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.
Clara van Karnebeek receives a European grant for CHARLIE project28 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.
RIMLS online award ceremony proudly presenting the winners13 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.
Cell spreading is hard work Bioenergetics of stem cell mechanoresponses in Biomaterials12 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.
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”.
Metabolomics Society Early Career Travel Award for Purva Kulkarni18 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.
Khondrion begins study on optimal dosage of new drug10 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 open23 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 Rodenburg16 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 Clinicians3 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 25 years jubilee festival The Future is Yesterday3 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 uncovered1 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 Mutation21 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,
Grant to study mitochondrial morphofunction in Parkinson’s disease14 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.
Mitochondrial DNA replication factors in mtRNA metabolism5 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 syndrome21 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.