The following news items are related to the research Mitochondrial diseases.
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.
Report of the 12th New Frontiers symposium Big data, better healthcare? - 1 November 20187 November 2018
Examples from the application of deep learning to image reading in pathology and radiology and the application of network medicine to monitor infectious disease outbreaks or collective mood states using twitter data showed the huge potential of big data approaches for building better healthcare.
Report of the 12th New Frontiers symposium Better care, network care? - 2 November 20187 November 2018
No easy answers at this symposium last Friday, only challenges that can be overcome if we succeed in 5 things. First and most radically, put patients in the center of healthcare. Second, start with assessing what the local population needs and not what local professionals have to offer.
Tweaking the gearbox of mitochondrial complex I1 November 2018
Alfredo Cabrera-Orefice, Ulrich Brandt and colleagues, theme Mitochondrial Diseases, concluded in Nature Communications that the movement of a critical loop of subunit ND3 located at the ubiquinone-binding pocket of respiratory complex I is required to drive proton pumping.
Best clinical abstract award for Lando Janssen4 October 2018
During the annual John Goldman Conference on Chronic Myeloid Leukemia in Miami, Lando Janssen received the best clinical abstract award for his abstract entitled “Skeletal muscle toxicity associated with tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia”.
Biodegradable nanoreactors demonstrate ROS shielding in human-complex-I-deficient fibroblasts9 July 2018
Researchers of the Radboudumc and colleagues have successfully developed enzyme-loaded polymersomal nanoreactors capable of undergoing cellular integration in a controlled fashion and, subsequently, function as synthetic organelles.
Exercise and the kidneys; effects on kidney function and injury26 June 2018
Coen Bongers, Thijs Eijsvogels, Maria Hopman and colleagues published an article in Physiological Reports on the effects of acute versus prolonged exercise and dehydration on kidney function and kidney damage in healthy young adults.
Unique protein is a vulnerability in the malaria parasite18 April 2018
The malaria parasite is highly dependent on a unique protein for infecting new mosquitoes. This protein could be a target for the development of new drugs. It was discovered recently by researchers from Radboudumc and colleagues and published in Cell Reports.
Predicting metabolites based on bacterial genes19 March 2018
What do the bacteria eat, that live on your skin? Scientists at Radboudumc and Utrecht University have developed a novel computer model to answer this question, revealing that a lot of the food for skin bacteria is derived from beauty and skin care products.
Organize an international symposium? Be involved in the ENABLE 2019 Nijmegen event15 March 2018
For the organisation of ENABLE 2019, we are searching for a Local Organising Committee (LOC). PhD candidates and postdocs who would like to be involved in hosting the European young researcher symposium in Nijmegen 2019.
Save the date for Radboud New Frontiers 2018: Betere zorg, netwerkzorg?17 January 2018
After standard care, standardized care, and personalized care, network care will be care 4.0. But how exactly do you do that? Should we create new structures for it or is it just a matter of trust and ability to step back?
Save the date for Radboud New Frontiers 2018: Big data, better healthcare?17 January 2018
How is big data influencing healthcare and healthcare research? How will it help us and what are the limitations? The first day of the 12th edition of the Radboud New Frontiers symposium, on 1 November 2018, will give you all the answers (and raises new questions).
Transmural care to improve participation in sick children23 November 2017
Together with the Amalia Children’s hospital and “Stichting Kind en Ziekenhuis”, Chris Verhaak (Medical Psychology, theme Mitochondrial diseases) received a grant of 450.000 euro grant from “Zorginstituut Nederland” for the project TRANSIT.