Results 1 to 10 of about 11,580,920 (364)

Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)

罕见病研究, 2022
In recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine, this
Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Disease, Beijing Society of Rare Disease Clinical Care and Accessibility, Gitelman Syndrome Consensus Working Group   +3 more
doaj   +1 more source

Living with a rare disease - experiences and needs in pediatric patients and their parents

Orphanet Journal of Rare Diseases, 2023
Background A rare disease (RD) diagnosis and therapy can affect the family’s quality of life and mental health. A lack of information and missing care options lead to helplessness and psychological stress within families.
Stefanie Witt, Katharina Schuett, S. Wiegand-Grefe, Johannes Boettcher, J. Quitmann   +4 more
semanticscholar   +1 more source

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

Xiehe Yixue Zazhi, 2023
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, National Rare Diseases Committee, Beijing Rare Disease Diagnosis, Treatment and Protection Society   +4 more
doaj   +1 more source

Artificial intelligence in rare disease diagnosis and treatment

Clinical and Translational Science, 2023
Artificial intelligence (AI) utilization in health care has grown over the past few years. It also has demonstrated potential in improving the efficiency of diagnosis and treatment.
M. Wojtara, E. Rana, Taibia Rahman, Palak Khanna, Heshwin Singh   +4 more
semanticscholar   +1 more source

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Nature Network Boston, 2023
Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics program provided whole-genome sequencing to 290 families whose critically ...
S. Lunke, Sophie E. Bouffler, C. Patel, S. Sandaradura, Meredith Wilson, J. Pinner, M. Hunter, Christopher Barnett, M. Wallis, B. Kamien, T. Tan, M. Freckmann, B. Chong, D. Phelan, David Francis, K. Kassahn, Thuong T. Ha, Song Gao, P. Arts, Matilda R Jackson, H. Scott, Stefanie Eggers, Simone M. Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R. Brett, Michelle G. de Silva, A. Springer, Michelle Ward, Kirsty Stallard, Cas Simons, Thomas Conway, A. Halman, Nicole J. Van Bergen, Tim Sikora, Liana N. Semcesen, David Stroud, A. Compton, D. Thorburn, K. Bell, S. Sadedin, K. North, J. Christodoulou, Zornitza Stark   +43 more
semanticscholar   +1 more source

A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance

Orphanet Journal of Rare Diseases, 2023
Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through registries, adequate design and maintenance are ...
I. C. Hageman, I. V. van Rooij, I. de Blaauw, M. Trajanovska, S. King   +4 more
semanticscholar   +1 more source

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Nature Network Boston, 2023
A flexible and compact database containing rare variant genotypes and phenotypes of 77,539 participants sequenced by the 100,000 Genomes Project enables the identification of new disease-causing genes.
D. Greene, D. Pirri, K. Frudd, E. Sackey, M. Al‐Owain, A. Giese, K. Ramzan, Sehar Riaz, I. Yamanaka, N. Boeckx, C. Thys, B. Gelb, P. Brennan, V. Hartill, J. Harvengt, T. Kosho, S. Mansour, M. Masuno, T. Ohata, H. Stewart, K. Taibah, C. Turner, F. Imtiaz, S. Riazuddin, T. Morisaki, P. Ostergaard, B. Loeys, H. Morisaki, Zubair M. Ahmed, G. Birdsey, K. Freson, A. Mumford, E. Turro   +32 more
semanticscholar   +1 more source

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

JAMA Network Open, 2023
Key Points Question Do rare disease experts endorse genome sequencing of newborns to screen for treatable genetic diseases, and do they agree on which genes to include?
Nina B. Gold, Sophia M Adelson, Nidhi Shah, Shardae Williams, Sarah Bick, Emilie S. Zoltick, Jessica I. Gold, A. Strong, Rebecca Ganetzky, A. Roberts, M. Walker, A. Holtz, V. Sankaran, O. Delmonte, Weizhen Tan, I. Holm, J. Thiagarajah, J. Kamihara, J. Comander, E. Place, J. Wiggs, R. C. Green   +21 more
semanticscholar   +1 more source

Biomarkers in Rare Diseases [PDF]

International Journal of Molecular Sciences, 2021
There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...]
openaire   +3 more sources

Emerging roles and opportunities for rare disease patient advocacy groups

Therapeutic Advances in Rare Disease, 2023
Background: Patient advocacy groups (PAGs) serve a vital role for rare disease patients and families by providing educational resources, support, and a sense of community.
Amy M. Patterson, M. O'Boyle, Grace E. VanNoy, K. Dies   +3 more
semanticscholar   +1 more source