Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from historically underserved communities, including low- and middle-income countries. The Undiagnosed Diseases Network International (UDNI) was launched in 2015 to help fill the knowledge gaps that impede diagnosis for rare diseases, and to foster the translation of research into medical practice, aided by active patient involvement. To better pursue these goals, in 2021 the UDNI established the Diagnostic Working Group of the UDNI (UDNI DWG) as a community of practice that would (a) accelerate diagnoses for more families; (b) support and share knowledge and skills by developing Undiagnosed Diseases Programs, particularly those in lower resource areas; and (c) promote discovery and expand global medical knowledge. This Perspectives article documents the initial establishment and iterative co-design of the UDNI DWG.
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http://dx.doi.org/10.1038/s41525-024-00422-y | DOI Listing |
Eur J Case Rep Intern Med
November 2024
Department of Lung Diseases and Thoracic Surgery, Pauls Stradins Clinical University Hospital, Riga, Latvia.
Background: Clinically amyopathic dermatomyositis (CADM) is a rare subtype of idiopathic inflammatory myositis often linked with the presence of autoantibodies targeting melanoma differentiation-associated protein 5 (MDA5). Patients with CADM are at increased risk of developing rapidly progressing interstitial lung disease, which significantly increases both morbidity and mortality compared to other forms of inflammatory myopathies. While there is no standardized treatment regimen, current therapeutic strategies are generally focused on combination immunosuppressive therapies.
View Article and Find Full Text PDFHum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Thai Red Cross Emerging Infectious Diseases Health Science Centre, King Chulalongkorn Memorial Hospital, Bangkok, Thailand
Background: Alzheimer’s disease (AD) is referred as one of the most common causes of dementia and frailty. To address this impending public health crisis, there is a critical need to identify simple and reliable biomarkers for early AD diagnosis. Recent research has highlighted the potential utility of salivary lactoferrin (Lf) as a promising biomarker for AD diagnosis.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, Foundation for the Advancement of Scientific Research in Suriname, Paramaribo, Suriname.
Introduction: Mobile migrants are subject to restricted healthcare access, which may result in the spread of certain infectious diseases. The aim of this study is to evaluate the burden of a subset of priority infectious diseases in mobile migrants in remote gold mining areas in the forested interior of Suriname.
Methods: This cross-sectional study enrolled mobile migrants in 13 study sites between January and June 2022.
Int J Surg Case Rep
January 2025
Department of Thoracic Surgery, Al-Ahli Hospital, Hebron, Palestine; Department of Medicine, Faculty of Medicine and Health Sciences, Al-Quds University, Jerusalem, Palestine.
Introduction And Importance: Pulmonary lymphangitis carcinomatosis (PLC) is a rare and aggressive condition that silently spreads cancer cells through the lungs' lymphatic system. Often linked to advanced malignancies, PLC often mimics other pulmonary diseases, making diagnosis challenging. This report shares the unique case of an asymptomatic patient whose routine follow-up imaging led to the early discovery of PLC, highlighting the life-saving potential of attentive medical care.
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