Results 21 to 30 of about 4,732,768 (313)

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, HALİDE ÖZGE, ÖZEN, SEZA, BİLGİNER, YELDA   +2 more
openaire   +3 more sources

Rare diseases and orphan drugs: Latvian story [PDF]

, 2014
Publisher Copyright: © 2014 Logviss et al.; licensee BioMed Central Ltd.Background: Ten years have passed since Latvia became a Member State of the EU in 2004.
Logviss, Konstantins, Krievins, Dainis, Purvina, Santa, Dainis Krievins, Santa Purvina, Konstantins Logviss   +5 more
core   +2 more sources

Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8 mnd mice

Orphanet Journal of Rare Diseases, 2022
Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death.
Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer   +6 more
doaj   +1 more source

Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseases

, 2022
A rare disease is generally defined as a condition which affects about 1 among 2000 people and currently, there are approximately 5000-8000 rare diseases (RDs) affecting over 400 million people world-wide.
Lundgren, Jenny,, Sveriges lantbruksuniversitet., Bella David, Aneth,   +2 more
core   +1 more source

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

Orphanet Journal of Rare Diseases, 2020
Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases ...
Rosario Sánchez-Martínez, Adriana Iriarte, José María Mora-Luján, José Luis Patier, Daniel López-Wolf, Ana Ojeda, Miguel Angel Torralba, María Coloma Juyol, Ricardo Gil, Sol Añón, Joel Salazar-Mendiguchía, Antoni Riera-Mestre, for the RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine   +12 more
doaj   +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

An easyguide to rare diseases in Ireland and consensus for action for government, the general public, media and political parties [PDF]

, 2020
The aims of this guide are to: • Explain what a rare disease is and how it is defined in health policy • Provide insights into living with a rare disease • Identify priorities patient advocacy groups would urge the Irish Government to include in the
IPPOSI, Health Research Charities Ireland, /, Rare Disease Ireland   +2 more
core  

Managing rare diseases: examples of national approaches in Europe, North America and East Asia

, 2022
Around 4% of the global population suffers from a rare disease. Apart from the medical aspect, economic, organisational, and political approaches remain key aspects when it concerns the evolution of the world of rare diseases.
Cocqueel-Tiran, Florence, Cortial, Lucas, Trentesaux, Valérie, Moliner, Antoni Montserrat, Nguyen, Catherine, Julkowska, Daria, Blin, Olivier, Florence Cocqueel-Tiran, Olivier Blin, Lucas Cortial, Valérie Trentesaux, Catherine Nguyen, Antoni Montserrat Moliner, Daria Julkowska   +13 more
core   +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   +2 more sources