Undiagnosed Diseases

01/01/2017 - "Briefly the UDP-WA is: i) one of a complementary suite of approaches that is being delivered within health service, and with community engagement, to address the needs of those with severe undiagnosed diseases; ii) delivered within a public health system to support equitable access to health care, including for those from remote and regional areas; iii) providing diagnoses and improved patient care; iv) delivering a platform for in-service and real time genomic and phenomic education for clinicians that traverses a diverse range of specialties; v) retaining and recapturing clinical expertise; vi) supporting the education of junior and more senior medical staff; vii) designed to integrate with clinical translational research; and viii) is supporting greater connectedness for patients, families and medical staff. "
01/01/2012 - "In 2008, the National Institutes of Health (NIH) launched the NIH Undiagnosed Diseases Program (UDP), which recruits and selects patients who suffer from diseases of unknown etiology, and studies their causes at the clinical, genetic and cellular levels. "
11/01/2023 - "The NIH Undiagnosed Diseases Program (UDP) aims to provide diagnoses to patients who have previously received exhaustive evaluations yet remain undiagnosed. "
09/26/2023 - "Semi-structured interviews were conducted with patients and parents of patients seen at the University of Alabama at Birmingham (UAB)'s unique, clinically focused Undiagnosed Diseases Program (UDP). "
07/29/2022 - "Whereas the diagnostic outcomes of undiagnosed disease programs have been well-described, here, we explore how parents experience participation in the UDP-Vic and the impact of receiving both diagnostic and non-diagnostic genomic sequencing results for their children. "

12/01/2018 - "Fast-track MRI had a great impact on patient management in CD patients with clinical or biomarker activity, leading to better patient stratification and faster optimization of the therapy (medical or surgical), while MRI revealed previously undiagnosed disease activity only in a small proportion of patients in clinical remission."
03/01/2013 - "The origins of certain VOCs in breath presumed to be endogenous have been proposed to be useful as preclinical biomarkers of various undiagnosed diseases including lung cancer, breast cancer, and cardio-pulmonary disease. "

01/01/2019 - "Although anti-PAD4 antibodies were associated with worse baseline radiographic joint damage, suggesting a history of active or undiagnosed disease, treatment escalation therapy was more effective in reducing disease activity and slowing the progression of joint damage in this patient subset."
01/01/2021 - "Despite the low positive predictive value of TGA-IgA and ASCA for celiac disease and inflammatory bowel disease respectively, screening for these antibodies identified undiagnosed disease in four patients with positive TGA-IgA and two others with positive ASCA. "

12/01/2020 - "Improved understanding of the role of poison exons in development and disease may present opportunities to solve previously undiagnosed disease and to develop therapeutic approaches in the future."

12/08/1993 - "A random capillary glucose test proved to be a simple and sensitive method of helping to identify previously undiagnosed disease. "
07/01/2006 - "Women, aged > or =25 years, from the Australian Diabetes, Obesity and Lifestyle Study and the Crossroads Undiagnosed Disease Study (a rural study in Victoria, Australia), participated in a household census (response 67 and 70%, respectively), subsequently attending a biomedical examination that included an oral glucose tolerance test (58% [6198] and 69% [819]). "
12/01/1991 - "Besides the higher overall prevalence, there is a greater proportion of males, a lower proportion undiagnosed disease, a younger age at diagnosis and a greater proportion of abnormal glucose tolerance that is due to non-insulin-dependent diabetes."

11/01/2017 - "A substantial part of the distress-IHD association is explained by confounding and functional limitations, an indicator of undiagnosed disease. "
05/01/2011 - "The diagnosis of anemia in blood donors may be an indicator of significant undiagnosed disease. "
12/01/2002 - "The diagnosis of erectile dysfunction can be an indicator for undiagnosed diseases, including coronary artery disease, hypertension, and diabetes mellitus. "

01/01/2021 - "Here we implemented an RNA-seq-guided method to diagnose individuals across a wide range of ages and clinical phenotypes.METHODSOne hundred fifteen undiagnosed adult and pediatric patients with diverse phenotypes and 67 family members (182 total individuals) underwent RNA-seq from whole blood and skin fibroblasts at the Baylor College of Medicine (BCM) Undiagnosed Diseases Network clinical site from 2014 to 2020. "
10/01/2020 - "As part of an Undiagnosed Diseases Program applying transcriptome (RNA) sequencing to identify the causes of these unsolved cases, we studied a child with severe infantile osteopetrosis leading to cranial nerve palsies, bone deformities, and bone marrow failure, for whom whole-genome sequencing was nondiagnostic. "

01/01/1989 - "Of particular significance, however, was the finding that eight of the 69 patients with undiagnosed disease were antigen positive despite the negative parasitological findings. "
07/01/2005 - "The high values of IgG1 and IgG2 suggest frequent contact with the antigen, and probable cases of undiagnosed disease."

01/01/2018 - "In addition, the participation of SpainUDP in international initiatives such as the European projects RD-Connect and Solve RD, the Undiagnosed Diseases Network International (UDNI), and the MatchMaker Exchange (MME) platform, allows the establishment of a global data sharing strategy across multiple projects submitting data to these international initiatives. "
01/01/2022 - "The number of unique genes present across the MME has steadily increased over time; there are currently >13,520 unique genes (~68% of all protein-coding genes) connected across the MME's eight genomic matchmaking nodes, GeneMatcher, DECIPHER, PhenomeCentral, MyGene2, seqr, Initiative on Rare and Undiagnosed Disease, PatientMatcher, and the RD-Connect Genome-Phenome Analysis Platform. "

04/01/2013 - "Two patients with elevated vitamin D levels and nephrocalcinosis or nephrolithiasis were investigated at the National Institutes of Health (NIH) Clinical Center and the NIH Undiagnosed Diseases Program, by measuring calcium, phosphate, and vitamin D metabolites, and by performing CYP24A1 mutation analysis. "

07/01/2021 - "This issue focuses on emergency department management of HIV patients both with successful disease suppression from long-term therapy as well as the patient with low CD4 counts in the context of lack of engagement with care, nonadherence, or undiagnosed disease. "
01/01/2020 - "This report addresses the role of personalized medicine in identifying effective therapy for an undiagnosed disease. "
01/01/2023 - "Screening for non-valvular atrial fibrillation (NVAF) is key in identifying patients with undiagnosed disease who may be eligible for anticoagulation therapy. "
01/01/2019 - "Although anti-PAD4 antibodies were associated with worse baseline radiographic joint damage, suggesting a history of active or undiagnosed disease, treatment escalation therapy was more effective in reducing disease activity and slowing the progression of joint damage in this patient subset."
12/01/2018 - "Fast-track MRI had a great impact on patient management in CD patients with clinical or biomarker activity, leading to better patient stratification and faster optimization of the therapy (medical or surgical), while MRI revealed previously undiagnosed disease activity only in a small proportion of patients in clinical remission."

10/01/2009 - "This study aimed to determine the prevalence of chronic obstructive pulmonary disease (COPD) in Spain and identify the level of undiagnosed disease and its impact on health-related quality of life (HRQL) and activities of daily living (ADL). "

01/01/2021 - "Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science."
10/01/2019 - "We developed a novel elective rotation in 'Genomic Medicine and Undiagnosed Diseases' for categorical Internal Medicine Residents to address this educational gap and serve as an adaptable model for training that can be applied broadly across different specialties and at other institutions. "
08/10/2019 - "We explore how genomic medicine is being used to obtain molecular diagnoses for patients with previously undiagnosed diseases in prenatal, paediatric, and adult clinical settings. "
08/10/2019 - "Genomic medicine for undiagnosed diseases."
08/10/2019 - "Genomic medicine, or the use of an individual's genomic information as part of their clinical care, is increasingly gaining acceptance in routine practice, including in assessing disease risk in individuals and their families, diagnosing rare and undiagnosed diseases, and improving drug safety and efficacy. "

06/23/2023 - "To better serve these patients, the Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) was created under the auspices of the Center for Individualized Medicine (CIM) aiming to integrate genomics into subspecialty practice including targeted genetic testing, research, and education. "
01/01/2022 - "His lab, along with the labs of Shinya Yamamoto and Michael Wangler at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute of Texas Children's Hospital in Houston, also function as the Drosophila Core of the Model Organisms Screening Center (MOSC) of the Undiagnosed Diseases Network (UDN) and the Center for Precision Medicine Models. "
01/01/2021 - "To provide comprehensive genomic testing to patients with undiagnosed disease, we established an Individualized Medicine Clinic, which offered clinical exome testing and included a Translational Omics Program (TOP) that provided variant curation, research activities, or research exome sequencing. "
04/01/2016 - "Nine vignettes (two unpublished) illustrate the relevance of an undiagnosed diseases program to complex and common disorders, the coincidence of multiple rare single gene disorders in individual patients, newly recognized mechanisms of disease, and the application of precision medicine to patient care. "
01/01/2020 - "This report addresses the role of personalized medicine in identifying effective therapy for an undiagnosed disease. "

12/01/2008 - "I reviewed current data surrounding hormone replacement therapy and the relationship between systemic estrogen plus progestin (E+P) treatment and increased breast cancer risk, and I explored the hypothesis that women who develop breast cancer while on E+P had occult, undiagnosed disease before they started therapy. "