News items related to the Department of Human Genetics.
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,
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies18 June 2019
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.
Universal tumor BRCA1/2 testing of ovarian cancer13 May 2019
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 stress18 March 2019
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.
Gene involved in colorectal cancer also causes breast cancer14 February 2019
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 disease25 January 2019
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 Genetics19 December 2018
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 scientists10 December 2018
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.
Successful teamwork between Neurology and Human Genetics leads to identification of two new ataxia genes19 September 2018
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 cases20 August 2018
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.
A low cholesterol level is not a good thing21 June 2018
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.
Intestinal bacteria can affect ADHD Publication in PLOS ONE25 September 2017
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.
Publication in Human Mutation Using homologous relationships of protein domains in the human genome to interpret genetic variation4 September 2017
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.