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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.
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 has been appointed Professor of Genome Bioinformatics at the Radboudumc / Radboud University as of 1 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 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.
Christian Gilissen and colleagues published in Genetics in Medicine about their work guiding the application of short tandem repeat analysis in clinical exome sequencing.
Alex Garanto has been honored with the 2021 Mary Ann Liebert, Inc. publishers Young Investigator Award
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.
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.
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.
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.
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.
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 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.
Research provides guidance for global application
Tom Schirris and colleagues, published an article entitled “Characterization of drug-induced human mitochondrial ADP/ATP carrier inhibition” in Theranostics.
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.
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 together with scientists from Erasmus MC has signed a license agreement with Sebia, world leader in multiple myeloma diagnostics.
Martijn Huijnen, will lead an European Regional Development Fund (EFRO) project entitled "Diagnostics-in-3D".
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.
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 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.
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”.
The award intends to stimulate young researchers and is based on their PhD thesis and follow-up research.
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.
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.
Radboudumc develops infographic with cooling information
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.
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.
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.
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.
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.
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 several prizes to stimulate and honor our (young) researchers. Please find here an overview of the upcoming awards. Deadline 12 December 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…...
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.
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,
During the 103rd edition of the International Four Days Marches Nijmegen, Maria Hopman’s research team carried out two studies.
Alain van Gool published a new handbook on biomarkers and applications in (pre)clinical drug development for precision medicine.
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.'
In 2020 funding will be made available for 8 RIMLS Junior Researcher projects. The call for these PhD grants is now open.
It is our pleasure to introduce the new leaders of the themes Mitochondrial diseases, Reconstructive and regenerative medicine and Vascular damage.
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.
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.
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.
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.
In 5 categories RIMLS young researchers received an award and bonus during the New Year's drinks. See all photo's.
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
It is our pleasure to announce the appointment of Bastiaan de Galan, theme Mitochondrial diseases, as associate professor.
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