GENTURIS registry

ERN registries

Registries are a very important part of the work done by ERNs. Any research on rare diseases can only take place if data is available and registries are the key as repositories of health data. For an overview of why ERN registries are important for rare disease research (available in English, French and Dutch, including subtitles), please see:

English spoken version, including subtitles

French spoken version, including subtitles

Dutch spoken version, including subtitles

GENTURIS registry

The GENTURIS registry is a web-based platform that facilitates standardized data registration and sharing of data across Europe to improve diagnostics, treatment and disease prevention in patients with a genetic tumour risk syndrome (GENTURIS).

The GENTURIS registry is the European registry for patients with one of the genetic tumour risk syndromes (genturis). The registry is affiliated to the European Reference Network for all patients with one of the genetic tumour risk syndromes (ERN GENTURIS).

The aim of the GENTURIS registry is to enable research that will provide insights into the natural disease history and care pathway by gathering data from a large number of genturis patients and providing regulated data access following a data access policy.

The registry enables a new wave of research opportunities from translational to epidemiological studies to clinical trials, and will accelerate the generation of new knowledge on genetic tumour risk syndromes. Research to improve recognition, detection, counselling and treatment of patients and to reduce variation in clinical outcomes across patients.

AIMS

To provide a sustainable, user-friendly and interoperable web-based registry platform that facilitates standardised registration of data on patients with a genturis known at participating Full Member and Affiliated Partner Health Care Providers (HCPs) of the ERN GENTURIS as well as other HCPs.
To facilitate sharing of data across Europe.
To be a unique source of data of a large number of patients with a genturis or patients highly suspected of a genturis.
To enable European research ranging from basic research to clinical trials on genturis.
To accelerate the generation of new knowledge on genturis through collaborative research.

UMCG coordination team

The GENTURIS registry is coordinated from 1 October 2023 onwards by the team from University Medical Centre Groningen:

Rolf Sijmons

1st representative ERN GENTURIS at UMCG, Professor of Medical Translational Genetics, clinical geneticist

Sanne Bajwa – ten Broeke

MD, PhD, Clinical Geneticist & researcher

Morris Swertz

Professor Bioinformatics at Dept. of Genetics, Head of Genomics Coordination Center

Gerieke Been

Project manager Rare disease databases and omics analysis, Genomics Coordination Center

Fernanda de Andrade

Technical data manager for Rare Disease team, Genomics Coordination Center

Marije van der Geest

Software manager, product adoption lead, Genomics Coordination Center

For more information, see https://genturis-registry.eu/ or contact the UMCG team via genturis-registry@umcg.nl.