Results 11 to 20 of about 1,622,414 (348)

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

Identifying Rare Events in Rare Diseases [PDF]

Clinical Cancer Research, 2015
Abstract Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with aggressive neuroblastoma masquerading as patients with a more benign form of the disease. Clin Cancer
Edward F, Attiyeh, John M, Maris
openaire   +2 more sources

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

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

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

Expert Consensus on Assessment for Rehabilitation and Treatment of Musculoskeletal Complications of Hemophilia in China

罕见病研究, 2022
Hemophilia is a group of hereditary hemorrhagic diseases. Hemorrhages mostly occur in musculoskeletal system and is the main cause for disability. Rehabilitation plays an important role in the comprehensive management in hemophilia.
Hemophilia Treatment Center Collaborative Network of China, China Alliance for Rare Diseases, Hemophilia Subcommittee   +1 more
doaj   +1 more source

Population Genetics of Rare Variants and Complex Diseases [PDF]

, 2012
Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today.
Hernandez, Ryan D., Maher, M. Cyrus, Torgerson, Dara G., Uricchio, Lawrence H.   +3 more
core   +2 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

Model consent clauses for rare disease research [PDF]

, 2019
Background: Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing.
Goldblatt, Jack, Isasi, Rosario, Jagut, Marlene, Jonker, Anneliene Hechtelt, Kaufmann, Petra, Kautmann, Petra, Knoppers, Bartha, Knoppers, Bartha Maria, Molnar-Gabor, Fruszina, Nguyen, Minh Thu, Ouillade, Laetitia, Shabani, Mahsa, Sid, Eric, Tasse, Anne Marie, Tasse, Anne-Marie, Wong-Rieger, Durhane   +15 more
core   +1 more source

Glucosylceramide synthase inhibition reduces ganglioside GM3 accumulation, alleviates amyloid neuropathology, and stabilizes remote contextual memory in a mouse model of Alzheimer’s disease

Alzheimer’s Research & Therapy, 2022
Background Gangliosides are highly enriched in the brain and are critical for its normal development and function. However, in some rare neurometabolic diseases, a deficiency in lysosomal ganglioside hydrolysis is pathogenic and leads to early-onset ...
James C. Dodge, Thomas J. Tamsett, Christopher M. Treleaven, Tatyana V. Taksir, Peter Piepenhagen, S. Pablo Sardi, Seng H. Cheng, Lamya S. Shihabuddin   +7 more
doaj   +1 more source