Results 41 to 50 of about 13,095,395 (361)

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

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

European Journal of Human Genetics, 2019
Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy.
Stéphanie Nguengang Wakap, D. Lambert, A. Olry, C. Rodwell, Charlotte Gueydan, V. Lanneau, D. Murphy, Y. le Cam, A. Rath   +8 more
semanticscholar   +1 more source

Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review

Frontiers in Pharmacology, 2022
Introduction: Rare diseases (RDs) are a severe, chronic, degenerative and often life-threatening group of conditions affecting more than 30 million people in Europe.
J. Delaye, P. Cacciatore, A. Kole
semanticscholar   +1 more source

A discrete choice experiment investigating preferences for funding drugs used to treat orphan diseases: an exploratory study [PDF]

, 2010
Policy debate about funding criteria for drugs used to treat rare, orphan diseases is gaining prominence. This study presents evidence from a discrete choice experiment using a convenience sample of university students to investigate individual ...
Jeremiah Hurley, Mentzakis, Emmanouil, Stefanowska, Patricia, Emmanouil Mentzakis, Patricia Stefanowska, Hurley, Jeremiah   +5 more
core   +1 more source

National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses

Orphanet Journal of Rare Diseases, 2021
Background China has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the last 5 years.
Jian Guo, Peng Liu, Limeng Chen, Haohan Lv, Jie Li, Weichao Yu, Kaifeng Xu, Yicheng Zhu, Zhihong Wu, Zhuang Tian, Ye Jin, Rachel Yang, Weihong Gu, Shuyang Zhang, the Administrative Group of National Rare Diseases Registry System of China   +14 more
doaj   +1 more source

Rare Autoinflammatory Diseases

Turkish Archives of Pediatrics, 2021
Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
Başaran, Özge, Bilginer, Yelda, Özen, Seza   +2 more
openaire   +2 more sources

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry

Orphanet Journal of Rare Diseases, 2022
Background According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year.
Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, M. Posada de la Paz, V. Alonso-Ferreira   +4 more
semanticscholar   +1 more source

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss

Genome Medicine, 2023
Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant enrichment among cases as "strong" evidence for pathogenicity per the PS4 criterion.
Sihan Liu, Mingjun Zhong, Yu Huang, Qian Zhang, Ting Chen, Xiaofei Xu, Wan Peng, Xiaolu Wang, Xiaoshu Feng, Lu Kang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +13 more
doaj   +1 more source

Rare Diseases of the Orbit.

Laryngo- rhino- otologie, 2021
This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space.
Kisser, Ulrich, Heichel, Jens, Glien, Alexander   +2 more
openaire   +2 more sources

Whole-genome sequencing of patients with rare diseases in a national health system

Nature, 2020
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1.
E. Turro, W. Astle, K. Megy, S. Gräf, D. Greene, O. Shamardina, H. Allen, Alba Sanchis-Juan, M. Frontini, C. Thys, J. Stephens, R. Mapeta, O. Burren, K. Downes, M. Haimel, Salih Tuna, S. Deevi, T. Aitman, David L. Bennett, P. Calleja, K. Carss, M. Caulfield, P. Chinnery, P. Dixon, D. Gale, R. James, A. Koziell, M. Laffan, A. Levine, E. Maher, H. Markus, Joannella Morales, N. Morrell, A. Mumford, Elizabeth Ormondroyd, Stuart Rankin, A. Rendon, S. Richardson, I. Roberts, N. Roy, M. Saleem, Kenneth G. C. Smith, H. Stark, R. Tan, A. Themistocleous, A. Thrasher, H. Watkins, A. Webster, M. Wilkins, C. Williamson, J. Whitworth, S. Humphray, D. Bentley, N. Kingston, N. Walker, J. Bradley, Sofie Ashford, C. Penkett, K. Freson, K. Stirrups, F. Raymond, W. Ouwehand, N. BioResource, 100000 Genomes Project   +63 more
semanticscholar   +1 more source