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Women more likely to develop mild variant Stargardt's disease
24 May 2024
The construction of a national database will accelerate research on hereditary cancer
€3.4 million grant from KWF ensures the gathering of rare data
6 December 2023
Radboudumc participates in HiFi Solves, a Global Consortium of Clinical Genomics Research Leaders
Aim to Share Best Practices and Increase the Understanding of Genetic Disease
22 November 2023
ZonMW subsidies for faster weaning from ventilation and the effectiveness of Rituximab in systemic sclerosis
Two times eight hundred thousand in funding for research at Radboudumc
22 November 2023
New Nijmegen method reveals hidden genetic variations
Valuable data mining in the dark corners of the exome now possible worldwide
1 November 2023
Advancing Therapies for Pediatric Renal Ciliopathies - TheRaCil
5 October 2023
Nicol Voermans appointed Professor of Muscular Diseases
21 September 2023
Facial recognition aids diagnosis of hereditary developmental disorders
New computer model is of great importance for children with rare syndromes
8 August 2023
Unknown mechanism behind muscle degeneration elucidated
14 July 2023
Scoliosis in Koolen-de Vries syndrome
4 July 2023
Radboud University Medical Center and PacBio Team Up for New Discoveries in Rare Disease Research
Collaboration Aims to Show Utility and Cost Effectiveness of HiFi Sequencing in Clinical Research Settings, Using Revio Systems
14 June 2023
Sleep problems Usher patient appears to be a hallmark feature of the disease
Vision impairment is not the driver of fatigue and sleep problems
10 May 2023
8.8 million euros for accelerated drug repurposing for rare neurological disorders
SIMPATHIC Consortium receives grant from European Commission
17 April 2023
Specific DNA mutations are common in atypical tumors of patients with Lynch syndrome
Abnormalities increase the chance of effective treatment
12 April 2023
Does this mutation cause blindness? It does, doesn’t, does!
Janine Reurink ends long lasting controversy with major impact on healthcare
6 April 2023
Five neuromuscular rare disease registries provide joint answers to questions from researchers or patients
Proven interoperability
4 April 2023
Golden ticket for optimal SLT care
Guidance for speech-language therapists in treating pediatric neuromuscular disorders
28 March 2023
First patients with hereditary eye disease treated with investigational gene therapy
Study shows potential to restore vision with new therapy
6 March 2023
New DNA analysis technique detects hereditary colon cancer
Patients receive genetic diagnosis after many years of uncertainty
21 November 2022
Patients need much less medication in rare kidney disease
7 November 2022
Dogma broken: sex differences in XLMTM mapped out
Women also experience muscle symptoms due to genetic disorder X-linked MTM
6 October 2022
2.4 million euros for research into rare eye disease RP17
Researchers study prevalence, disease mechanism and new therapy
18 July 2022
New analysis of old genetic test often leads to diagnosis
Improved technology reveals cause of disease after years
20 June 2022
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