Services for Patients with Rare Genetic Diseases in Germany.

Claudia Schmidtke, Peter Kühnen, Knut Mai, Christine Mundlos, Jakob Severin Cepus, Nicole Heider, Theresa Lipp

Abstract readReview

In one paragraph

Review in Journal of community genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Claudia SchmidtkeBerlin Center for Rare Diseases, Charité-Universitaetsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt- Universität zu Berlin and Berlin Institute of Health, 13353, Berlin, Germany. claudia.schmidtke@charite.de.

Peter KühnenBerlin Center for Rare Diseases, Charité-Universitaetsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt- Universität zu Berlin and Berlin Institute of Health, 13353, Berlin, Germany.

Knut MaiBerlin Center for Rare Diseases, Charité-Universitaetsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt- Universität zu Berlin and Berlin Institute of Health, 13353, Berlin, Germany.

Christine MundlosAlliance for Chronic Rare Diseases (ACHSE) e.V., Berlin, Germany.

Jakob Severin CepusAlliance for Chronic Rare Diseases (ACHSE) e.V., Berlin, Germany.

Nicole HeiderAlliance for Chronic Rare Diseases (ACHSE) e.V., Berlin, Germany.

Theresa LippBerlin Center for Rare Diseases, Charité-Universitaetsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt- Universität zu Berlin and Berlin Institute of Health, 13353, Berlin, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

It is estimated that there are currently around 4 million people with a diagnosed rare disease living in Germany, 300 million people worldwide. Rare Disease Centers (RDCs) were founded in Germany as part of the National Action Plan for People with Rare Diseases to improve patient care. Currently, more than 30 RDCs exist. With a focus on coordinating patient pathways and guiding people with a definite or a suspected diagnosis of a rare disease, RDCs organize interdisciplinary case conferences and form networks with dedicated local, national, and international experts for specific rare diseases. This article expounds on the current status and the function of RDCs in Germany. The Berlin Center for Rare Diseases will be discussed as an example. In addition to a description of the center’s workflow, its relationship to other organizations such as European Reference Networks and Patient Organizations as well as its role within the National Strategy for Genomic Medicine will be explained.

Indexed as

Genomic medicineNational action planPatient pathwaysRare Disease Centers Germany

Identifiers

PMID41618057

DOI10.1007/s12687-026-00865-z

PMCPMC12858715

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