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This study found evidence of a lack of co-ordinated care for people affected by rare diseases, which could have negative impacts on the physical and mental health of patients and families.

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Stephen Morris 1,*, Emma Hudson 1, Lara Bloom 2, Lyn S Chitty 3, Naomi J Fulop 4, Amy Hunter 5, Jennifer Jones 5, Joe Kai 6, Larissa Kerecuk 7, Maria Kokocinska 7, Kerry Leeson-Beevers 8, Pei Li Ng 4, Sharon Parkes 7, Angus IG Ramsay 4, Amy Simpson 5, Alastair Sutcliffe 9, Christine Taylor 4, Holly Walton 4

1 Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
2 The Ehlers–Danlos Society, London, UK
3 North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust and the University College London Great Ormond Street NHS Foundation Trust, London, UK
4 Department of Applied Health Research, University College London, London, UK
5 Genetic Alliance UK, London, UK
6 Centre for Academic Primary Care, University of Nottingham, Nottingham, UK
7 Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
8 Alström Syndrome UK, Torquay, UK
9 Great Ormond Street Hospital for Children NHS Foundation Trust, University College London, London, UK
* Corresponding author Email: sm2428@medschl.cam.ac.uk

Declared competing interests of authors: Stephen Morris has been a member of the following National Institute for Health Research (NIHR) committees: NIHR Heath and Social Care Delivery Research (HSDR) Funding Board (2014–19), NIHR HSDR Commissioning Board (2014–16), NIHR HSDR Evidence Synthesis Sub-board (2016), NIHR Health Technology Assessment (HTA) Clinical Evaluation and Trials Board (associate member 2007–9), NIHR HTA Commissioning Board (2009–13), NIHR Public Health Research Funding Board (2011–17) and NIHR Programme Grants for Applied Research Expert Sub-Panel (2015–19). Naomi J Fulop is a NIHR Senior Investigator and was a member of the NIHR HSDR Funding Board (2013–18). Amy Hunter and Jennifer Jones have both received funding from Alexion Pharmaceuticals (Boston, MA, USA) outside the submitted work. Angus IG Ramsay was an associate NIHR HSDR Funding Board member (2015–18).

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