Global health for rare diseases through primary care.

Humans Rare Diseases / therapy Global Health Primary Health Care / organization & administration World Health Organization Health Services Accessibility

Journal

The Lancet. Global health
ISSN: 2214-109X
Titre abrégé: Lancet Glob Health
Pays: England
ID NLM: 101613665

Informations de publication

Date de publication:
Jul 2024
Historique:
received: 01 09 2023
revised: 19 03 2024
accepted: 19 03 2024
medline: 15 6 2024
pubmed: 15 6 2024
entrez: 14 6 2024
Statut: ppublish

Résumé

Rare diseases affect over 300 million people worldwide and are gaining recognition as a global health priority. Their inclusion in the UN Sustainable Development Goals, the UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease, and the anticipated WHO Global Network for Rare Diseases and WHO Resolution on Rare Diseases, which is yet to be announced, emphasise their significance. People with rare diseases often face unmet health needs, including access to screening, diagnosis, therapy, and comprehensive health care. These challenges highlight the need for awareness and targeted interventions, including comprehensive education, especially in primary care. The majority of rare disease research, clinical services, and health systems are addressed with specialist care. WHO Member States have committed to focusing on primary health care in both universal health coverage and health-related Sustainable Development Goals. Recognising this opportunity, the International Rare Diseases Research Consortium (IRDiRC) assembled a global, multistakeholder task force to identify key barriers and opportunities for empowering primary health-care providers in addressing rare disease challenges.

Identifiants

DOI: 10.1016/S2214-109X(24)00134-7 PMID: 38876765
pubmed: 38876765
pii: S2214-109X(24)00134-7
doi: 10.1016/S2214-109X(24)00134-7
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

e1192-e1199

Informations de copyright

Copyright © 2024 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC 4.0 license. Published by Elsevier Ltd.. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests PC is an employee of Medcan. HG receives grants or contracts from the European Commission and German Ministries for Health and Research; holds a leadership and fiduciary role as management team coordinating panel on rare neurological diseases, European Academy of Neurology; is a board member of association of German Centres for Rare Diseases; and is the chair of coordinators’ group of European Reference Networks. AG is an employee of Sanofi. SG is a volunteer and a board member of Every Life Foundation. All other authors declare no competing interests.

Auteurs

Gareth Baynam (G)

Rare Care Centre, Perth Children's Hospital and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA, Australia. Electronic address: gareth.baynam@health.wa.gov.au.

Adam L Hartman (AL)

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Mary Catherine V Letinturier (MCV)

IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research, Paris, France.

Matt Bolz-Johnson (M)

EURORDIS-Rare Diseases Europe, Fondation Universitaire, Brussels, Belgium.

Prescilla Carrion (P)

University of British Columbia, Vancouver, BC, Canada.

Alice Chen Grady (AC)

National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, United States.

Xinran Dong (X)

Children's Hospital of Fudan University, Shanghai, China.

Marc Dooms (M)

University Hospitals Leuven, Leuven, Belgium.

Lauren Dreyer (L)

Genetic Services Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.

Holm Graessner (H)

Centre for Rare Diseases, Institute for Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.

Alicia Granados (A)

Global Medical Affairs Rare Diseases, Sanofi, Barcelona, Spain.

Tudor Groza (T)

Rare Care Centre, Perth Children's Hospital and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA, Australia; European Bioinformatics Institute, European Molecular Biology Laboratory, Hinxton, UK.

Elisa Houwink (E)

Department of Family Medicine, Mayo Clinic, Rochester, MN, USA.

Saumya Shekhar Jamuar (SS)

KK Women's and Children's Hospital, SingHealth Duke-NUS Institute of Precision Medicine, Singapore.

Tania Vasquez-Loarte (T)

Rare Disease G2MC, Department of Pediatrics, Wyckoff Heights Medical Center, New York, NY, USA.

Biruté Tumiene (B)

Vilnius University Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.

Samuel Agyei Wiafe (SA)

Rare Disease Ghana Initiative, Accra, Ghana.

Heidi Bjornson-Pennell (H)

Chan Zuckerberg Initiative, Redwood City, CA, USA.

Stephen Groft (S)

National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Global health for rare diseases through primary care.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladies rares › Global health for rare diseases through primary care.
questionsmedicales.fr › Caractéristiques de la population › Santé › Santé mondiale › Global health for rare diseases through primary care.
questionsmedicales.fr › Administration des services de santé › Gestion des soins aux patients › Services de santé polyvalents › Soins de santé primaires › Global health for rare diseases through primary care.
questionsmedicales.fr › Organisations et économie des soins de santé › Organismes › Agences internationales › Nations Unies › Organisation mondiale de la santé › Global health for rare diseases through primary care.
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Prestations des soins de santé › Accessibilité des services de santé › Global health for rare diseases through primary care.