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Related Experiment Video

Updated: Jul 10, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Networking for rare diseases: a necessity for Europe.

S Aymé¹, J Schmidtke

¹Inserm, Orphanet Paris, Paris, France. ayme@orpha.net

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz

|November 21, 2007

Summary

Addressing rare diseases requires a unified approach. Initiatives like Orphanet and funded research networks are improving diagnosis, care, and quality of life for patients with these genetic conditions.

Area of Science:

Public Health
Genetics
Medical Research

Background:

Rare diseases are often life-threatening, genetically determined, and chronically debilitating.
Low individual prevalence necessitates collaborative efforts for diagnosis, care, and prevention.
A global approach is more feasible than disease-specific policies for rare conditions.

Purpose of the Study:

To present successful initiatives addressing rare diseases at the European Union (EU) and Member State levels.
To highlight strategies for improving scientific research, drug development, and patient care for rare conditions.

Main Methods:

Establishment of Orphanet: a comprehensive database for rare diseases and orphan drugs.
Funding of research networks to foster collaboration among scientific teams.

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Last Updated: Jul 10, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Support for networks of clinical centers of reference to enhance patient services and clinical research.

Main Results:

Orphanet provides an encyclopedia of rare diseases and a directory of expert services.
Funded research networks are boosting collaboration between research teams.
Networks of clinical centers of reference are improving patient care and clinical research development.

Conclusions:

EU and Member State initiatives have proven effective in developing solutions for rare diseases.
These initiatives positively impact patients' quality of life.
A coordinated, global strategy is essential for advancing rare disease research and care.