Results 31 to 40 of about 11,812,623 (407)

Learning from the Pandemic to Improve Care for Vulnerable Communities: The Perspectives and Recommendations from the Rare Disease Community

International Journal of Integrated Care, 2021
The COVID-19 pandemic has brought about health and social care disruptions for millions of people with complex health needs and disabilities, who are amongst the most vulnerable populations. More than ever before, the need for integrated care is pressing,
Raquel Castro, Erwan Berjonneau, Sandra Courbier   +2 more
doaj   +1 more source

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases

Orphanet Journal of Rare Diseases, 2022
Background Challenges faced by children diagnosed with a rare disease or complex condition and their family members are often characterized by disease-specific complexities, such as a prolonged diagnostic process, an uncertain prognosis, and the absence ...
Rosanne M. Smits, Eline Vissers, Rosan te Pas, Noor Roebbers, W. Feitz, I. V. van Rooij, I. de Blaauw, C. Verhaak   +7 more
semanticscholar   +1 more source

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

Orphanet Journal of Rare Diseases, 2022
The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more difficult in ...
Aimé Lumaka, N. Carstens, K. Devriendt, A. Krause, Benard W. Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, M. Nel, T. Olanrewaju, Z. Lombard, G. Landouré   +11 more
semanticscholar   +1 more source

mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease

Nature Communications, 2021
Glycogen Storage Disease 1a (Gsd1a) is an inherited disorder caused by glucose 6-phosphatase (G6Pase-α) deficiency and characterized by hypoglycaemia and high risk of liver cancer.
Jingsong Cao, Minjung Choi, Eleonora Guadagnin, Maud Soty, Marine Silva, Vincent Verzieux, Edward Weisser, Arianna Markel, Jenny Zhuo, Shi Liang, Ling Yin, Andrea Frassetto, Anne-Renee Graham, Kristine Burke, Tatiana Ketova, Cosmin Mihai, Zach Zalinger, Becca Levy, Gilles Besin, Meredith Wolfrom, Barbara Tran, Christopher Tunkey, Erik Owen, Joe Sarkis, Athanasios Dousis, Vladimir Presnyak, Christopher Pepin, Wei Zheng, Lei Ci, Marjie Hard, Edward Miracco, Lisa Rice, Vi Nguyen, Mike Zimmer, Uma Rajarajacholan, Patrick F. Finn, Gilles Mithieux, Fabienne Rajas, Paolo G. V. Martini, Paloma H. Giangrande   +39 more
doaj   +1 more source

Orphan drugs and the NHS: Should we value rarity [PDF]

, 2005
Cost effectiveness plays an important part in current decisions about the funding of health technologies. Drugs for rare disease (orphan drugs) are often expensive to produce and, by definition, will benefit only small numbers of patients.
Claxton, K., McCabe, C., Tsuchiya, A.
core   +2 more sources

Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model

Scientific Reports, 2021
Mutations in GBA, the gene encoding the lysosomal enzyme glucocerebrosidase (GCase), represent the greatest genetic risk factor for developing synucleinopathies including Parkinson’s disease (PD).
Catherine Viel, Jennifer Clarke, Can Kayatekin, Amy M. Richards, Ming Sum R. Chiang, Hyejung Park, Bing Wang, Lamya S. Shihabuddin, S. Pablo Sardi   +8 more
doaj   +1 more source

Being the Pillar for Children with Rare Diseases—A Systematic Review on Parental Quality of Life

International Journal of Environmental Research and Public Health, 2021
Parents caring for children with rare diseases fear the long-term progression of the child’s disease. The current study aims to systematically investigate the quality of life (QoL) in parents of children with different rare diseases.
Johannes Boettcher, Michael Boettcher, S. Wiegand-Grefe, H. Zapf   +3 more
semanticscholar   +1 more source

Unsupervised Representation Learning Meets Pseudo-Label Supervised Self-Distillation: A New Approach to Rare Disease Classification [PDF]

, 2021
Rare diseases are characterized by low prevalence and are often chronically debilitating or life-threatening. Imaging-based classification of rare diseases is challenging due to the severe shortage in training examples. Few-shot learning (FSL) methods tackle this challenge by extracting generalizable prior knowledge from a large base dataset of common ...
arxiv   +1 more source

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +7 more sources

Improving translational studies: lessons from rare neuromuscular diseases [PDF]

, 2015
Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core   +3 more sources