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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

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
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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

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

Biomarkers in Rare Diseases

Public Health Genomics, 2013
<b><i>Background:</i></b> Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification.
FERLINI, Alessandra, SCOTTON, Chiara, G. Novelli   +2 more
openaire   +3 more sources

Anaemia in Waldmann’s disease: A rare presentation of a rare disease

World Journal of Gastrointestinal Endoscopy, 2015
A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin.
Shahira A, El-Etreby, Ahmed Y, Altonbary, Mohamed El, Sorogy, Wagdi, Elkashef, Jehan A, Mazroa, Monir H, Bahgat   +5 more
openaire   +2 more sources

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

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

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

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