Third International Scientific Workshop on Glycoproteinoses

第三届国际糖蛋白科学研讨会

• 批准号: 8400331
• 负责人: Sara S Cathey
• 金额: $ 1万
• 依托单位: GREENWOOD GENETIC CENTER
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-07-01 至 2013-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8400331
• 关键词: Alzheimer' s Disease; Aspartylglucosaminuria; Basic Science; Case Study; Cessation of life; Disease; Educational workshop; Elements; Fucosidosis; Glycoproteins; Goals; I-Cell Disease; Inborn Genetic Diseases; International; Lead; Literature; Medical; Metabolic; Metabolic Diseases; Mucolipidoses; Myoclonus Cherry Red Spot Syndrome; Nerve Degeneration; Patient advocacy; Patients; Proteomics; Psyche structure; Rare Diseases; Research; Research Personnel; Support Groups; Translational Research; Zebrafish; beta-Mannosidosis; cartilage development; interest; meetings

DESCRIPTION (provided by applicant): The glycoprotein storage disorders are inherited metabolic conditions that cause progressive decline in mental and physical abilities and lead to early death. The diseases are aspartylglucosaminuria, fucosidosis, galactosialidosis, alphamannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis IIII, Schindler disease, and sialidosis. These diseases are neither famous nor infamous. They are collectively and individually underrepresented in patient support groups, case reports in the medical literature, and in basic and translational research. A goal of the Third International Workshop of Glycoproteinoses scientific meeting is to bring together experts who approach these conditions from different fields. Lysosomal disease research is no longer the purview of enzymologists. The geneticist who studies the neurodegeneration associated with Alzheimer's disease, the glycobiologist interested in cartilage development in zebrafish, and the pharmacologist who studies proteomics are all lysosomal disease researchers. They are unlikely to cross paths at another scientific meeting. Although metabolic diseases, including lysosomal disorders, are topics of discussion at variety of national and international meetings, only the International Workshop on Glycoproteinoses is dedicated to these disorders.

描述（由申请人提供）：糖蛋白储存障碍是一种遗传性代谢疾病，可导致智力和身体能力的进行性下降并导致早期死亡。这些疾病有：天冬氨酸糖氨基尿症、焦点病、半乳糖唾液中毒、α -甘露甘露中毒、β -甘露甘露中毒、II型黏脂质中毒、iii型黏脂质中毒、辛德勒病和唾液中毒。这些疾病既不出名也不臭名昭著。他们在患者支持小组、医学文献中的病例报告以及基础和转化研究中的集体和个人代表性不足。第三届国际糖蛋白研讨会科学会议的一个目标是将来自不同领域的研究这些疾病的专家聚集在一起。溶酶体疾病的研究不再是酶学家的职权范围。研究与阿尔茨海默病相关的神经变性的遗传学家，对斑马鱼软骨发育感兴趣的糖生物学家，以及研究蛋白质组学的药理学家都是溶酶体疾病的研究人员。他们不太可能在另一次科学会议上相遇。尽管包括溶酶体疾病在内的代谢性疾病是各种国内和国际会议讨论的主题，但只有糖蛋白酶国际研讨会专门讨论这些疾病。