Evidence map›Paper›PMID 28796445›Full record

ReviewClinical and translational science2018

Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Christopher P Austin, Christine M Cutillo, Lilian P L Lau, Anneliene H Jonker, Ana Rath, Daria Julkowska, David Thomson, Sharon F Terry, Béatrice de Montleau, Diego Ardigò and 13 more

Abstract readHistorical ArticleReview
In one paragraph

Review in Clinical and translational science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 135 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
135citing papers in PubMed, 3 pooled it
–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

135 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
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  7. Review
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  13. Advances in Cell and Gene Therapy for Rare Disease Treatment.International journal of stem cells · 2025
    Review
  14. Article
  15. Article
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  20. Article

75 more citing papers are in PubMed but not listed here.

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

23 authors.

Christopher P AustinNational Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Christine M CutilloNational Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Lilian P L LauIRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.
Anneliene H JonkerIRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.
Ana RathIRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.
Daria JulkowskaAgence Nationale de la Recherche (ANR), Paris, France.
David ThomsonShire, Lexington, Massachusetts, USA, (until April 2017).
Sharon F TerryGenetic Alliance, Washington DC, USA.
Béatrice de MontleauEURORDIS-Rare Diseases Europe, Paris, France.
Diego ArdigòCorporate Drug Development, Chiesi Farmaceutici S.p.A., Italy.
Virginie HivertEURORDIS-Rare Diseases Europe, Paris, France.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
Gareth BaynamGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
Petra KaufmannNational Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Domenica TaruscioNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Hanns LochmüllerInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Makoto SuematsuJapan Agency for Medical Research and Development (AMED), Tokyo, Japan.
Carlo IncertiSanofi Genzyme, Cambridge, Massachusetts, USA.
Ruxandra Draghia-AkliDirectorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).
Irene NorstedtDirectorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).
Lu WangNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Hugh J S DawkinsOffice of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
International Rare Diseases Research Consortium (IRDiRC)

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

International CooperationIntersectoral CollaborationAccess to InformationGoalsHealth Services AccessibilityHistory, 21st CenturyHumansInformation DisseminationPatient ParticipationPrevalenceRare DiseasesRegistriesTranslational Research, Biomedical

Identifiers

PMID28796445
PMCPMC5759721

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.