News

European research project raises hopes in fight against rare diseases Solve-RD successfully established an innovative approach to jointly re-analyze genomic and phenotypic data from unsolved rare disease patients

For the first time in Europe hundreds of rare disease experts team up to actively share and jointly analyze existing data from unsolved rare disease patients.

Current overview of intriguing RNA therapies

In an article in EMBO Molecular Medicine, researchers from Radboudumc, together with European colleagues, provide an up-to-date overview of the (im)possibilities of these intriguing RNA therapies.

Young Investigator Poster Award at ESHG 2020 for Anouk Verboven

The Best Poster in Basic Research was awarded to Anouk Verboven, PhD student at the Department of Human Genetics and at the CMBI.

MetaDome highly accessed

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.

Gene controls the formation of photosensitive disks in retinal cells

Researchers have unraveled a molecular mechanism that regulates the build-up of the photosensitive segments in the cones and rods in the retina. A protein PCARE, controls this process. These new insights, published in PNAS USA, could make a significant contribution to new therapies for eye diseases.

Interleukin-37 plays a rol in the pathogenesis and treatment of gout

RIMLS researchers Leo Joosten, Viola Klück and Rosanne van Deuren, in collaboration with the Dept. of Human Genetics, discovered that rare genetic variants in interleukin-37 link the anti-inflammatory cytokine to the pathogenesis and treatment of gout.

Three Vici grants for Radboudumc researchers

Christian Beckmann, Sander Leeuwenburgh and Annette Schenck each receive a 1.5 million euro Vici research grant from NWO.

Rubicon Grant for Marieke Klein

DCMN researcher Marieke Klein, theme Neurodevelopmental disorders, received a Rubicon Grant from the Dutch Organisation for Scientific Research (NWO). The Rubicon program gives young, highly promising researchers the opportunity to gain international research experience.

Awarded KWF grants for Radboudumc researchers

KWF is investing 2.7 million euros in five different studies at Radboudumc. The awards are part of the new round of funding by DCS, in which over 34 million euros will be granted to Dutch cancer research. We congratulate our researchers with this funding and wish them success with their great work.

Hans van Bokhoven newly elected in Academia Europaea

The Academia Europaea is a functioning European Academy of Humanities, Letters and Sciences, composed of individual members.

Front cover Human Mutation

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,

Nicoline Hoogerbrugge and Michiel Vermeulen newly elected in Academia Europaea

The Academia Europaea is a functioning European Academy of Humanities, Letters and Sciences, composed of individual members.

Successful Summer School by CMBI, TML and Human Genetics

CMBI, TML and Human Genetics organized a successful Summer School on 'Integrative X-omics Analyses Empowering Personalized Healthcare'.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test. Alexander Hoischen and Mihai Netea, theme Infectious diseases and global health, and colleagues, published their results in Genome Medicine.

Alexander Hoischen appointed as associate professor

Alexander Hoischen, affiliated with the department of Human Genetics and the department of Internal Medicine, has been appointed as associate professor ‘Genomic technologies & immuno-genomics’.

Universal tumor BRCA1/2 testing of ovarian cancer

Marjolijn Ligtenberg, Janet Vos and Nicoline Hoogerbrugge, assessed the feasibility of a workflow for universal tumor DNA BRCA1/2 testing of all newly diagnosed OC patients as prescreen for PARPi treatment and cancer predisposition testing. They have published their findings in the JNCI.

How a gene called G9a regulates the energy supply for stress

In order to survive, all organisms must be able to detect (threatening) changes in their environment and respond to them adequately and quickly. However, such stress responses (e.g., escape from a predator or immune response to an infection) are very energy-consuming.

Genetic overlap between ADHD and brain volumes

In the American Journal of Psychiatry Marieke Klein and Barbara Franke showed that significant genetic overlap exists between brain volume measures and ADHD, both on the global and the single variant level.

Gene involved in colorectal cancer also causes breast cancer

Judith Grolleman, Nicoline Hoogerbrugge and Richarda de Voer, theme Tumors of the digestive tract, published in Cancer Cell that mutations in the NTHL1 gene, previously associated with colorectal cancer, also cause breast cancer and other types of cancer.

A band aid to prevent blindness a solution in the fight against Stargardt disease

You cut your finger? Patch it up with a band aid and let the healing begin. How convenient would it be if this would work in an eye. If you can cure blinding eye diseases with a band aid, or at least slow them down.

Ciliopathies paper in American Journal of Human Genetics

Miriam Schmidts, theme Renal disorders, and colleagues, discovered that recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects. Their exciting findings are published in the American Journal of Human Genetics.

3 DCMN researchers among most cited scientists

Christian Beckmann, Jan Buitelaar and Barbara Franke made it to this year’s list of highly cited researchers. Scientists in this list are selected for their exceptional research performance and are regarded to have had a major impact on fellow scientists.

New grant for DIABIP project

An EFRO grant (European Fund for Regional Development) of € 948,808 was assigned to the researchgroup of the DIABIP project led by Kirsten Kluivers, urogynaecologist of the Radboudumc, and part of the theme Reconstructive and regenerative medicine.

ZonMw grant to promote large scale (re)use of DNA data

Collaborative effort towards enhanced reusability of DNA data facilitates future personalized medicine approaches.

Researchers launch mini-documentary on ADHD

Previous Wednesday, on the last day of the ADHD Awareness Month, several European research consortia launch a mini-documentary about ADHD. People with ADHD and their loved ones explain how they deal with ADHD in very different ways.

A personal touch of Cenna van Manen

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: Cenna van Manen.

Successful teamwork between Neurology and Human Genetics leads to identification of two new ataxia genes

Thanks to close cooperation between Bart van de Warrenburg (Neurology) and Erik-Jan Kamsteeg (Humans Genetics) two new genes involved in movement disorders were identified. The genes are relevant for autosomal recessive cerebellar ataxia.

Brain specific mutations may only explain sporadic Alzheimer's disease in very few cases

Alexander Hoischen, theme Infectious diseases and global health, and colleagues studied brain- and blood-DNA of sporadic early-onset Alzheimer’s disease (AD) patients, for somatic mutations in the known AD genes.

PTEN Research grant for the theme Tumors of the digestive tract

Janet Vos (photo), Nicoline Hoogerbrugge and Marleen Kets received € 265.000 funding from the UK PTEN Research Foundation.

A low cholesterol level is not a good thing

Research shows that low cholesterol can also be harmful. Researchers from Radboudumc and their Australian and American colleagues discovered a new metabolic defect, producing very low cholesterol levels. This causes brain anomalies, developmental delay, epilepsy and typical facial deformities.

RP Fighting Blindness Grant for Rob Collin and Frans Cremers

Rob Collin and Frans Cremers have been awarded a £ 120,000 grant from the RP Fighting Blindness society in the UK.

Pooling resources for diagnostics of the future

H2020 grant of 15 million Euro for research of rare diseases.

Intestinal bacteria can affect ADHD Publication in PLOS ONE

For the very first time, researchers have found a possible link between the activity of certain intestinal bacteria and human brain activity. In people with ADHD, the researchers found more bacteria that influence the reward centres of the brain via dopamine.

Great potential of N/TERT cells in skin research Publication in Scientific Reports

Showing the great potential of two immortalized human keratinocyte cell lines (N/TERT1 and N/TERT2G) for studies on epidermal biology, inflammatory skin disease pathogenesis and therapeutics.

Publication in Human Mutation Using homologous relationships of protein domains in the human genome to interpret genetic variation

This publication is part of the PhD project of Laurens van de Wiel and shows how homologous protein domain relations may be used to interpret normal and pathogenic variation at a much finer scale than previously possible.

Miniature brain facilitates research on antiepileptic medication

Collaborating with Kempenhaeghe and Maastrict UMC+, Radboudumc and the Donders Institute are starting research into predicting the effects of antiepileptic medication.

Fighting Blindness' to fund vision research

FFB-Program Project Award for Ronald Roepman