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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