M. C. Ergoren, E. Manara, S. Paolacci, H. Çobanogullari, G. Tuncel, Meryem Betmezoğlu, M. Bertelli, T. Şanlıdağ
{"title":"两年期报告:MAGI遗传和罕见病研究、诊断和治疗中心与近东大学DESAM研究所的合作","authors":"M. C. Ergoren, E. Manara, S. Paolacci, H. Çobanogullari, G. Tuncel, Meryem Betmezoğlu, M. Bertelli, T. Şanlıdağ","doi":"10.2478/ebtj-2020-0020","DOIUrl":null,"url":null,"abstract":"Abstract Background Scientific collaboration is more common now than it was before. In many areas of biomedical science, collaborations between researchers with different scientific backgrounds and perspectives have enabled researchers to address complicated questions and solve complex problems. Particularly, international collaborations and improvements in science and technology have shed light on solving the mechanisms that are involved in the etiology of many rare diseases. Hence, the diagnosis and treatment options have been improved for a number of rare diseases. The collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases brought out significant results. Importantly, this collaboration contributed to the rare disease research by the identification of novel rare genetic disease-causing variations commonly in pediatric cases. Consequently, many pediatric unsolved cases have been diagnosed. The main scope of this article is to emphasize the outcomes of the collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases which contributed greatly to the scientific literature by identifying novel rare genetic disease-causing variation.","PeriodicalId":22379,"journal":{"name":"The EuroBiotech Journal","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2020-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Biennial report: The collaboration between MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases and Near East University DESAM Institute\",\"authors\":\"M. C. Ergoren, E. Manara, S. Paolacci, H. Çobanogullari, G. Tuncel, Meryem Betmezoğlu, M. Bertelli, T. Şanlıdağ\",\"doi\":\"10.2478/ebtj-2020-0020\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract Background Scientific collaboration is more common now than it was before. In many areas of biomedical science, collaborations between researchers with different scientific backgrounds and perspectives have enabled researchers to address complicated questions and solve complex problems. Particularly, international collaborations and improvements in science and technology have shed light on solving the mechanisms that are involved in the etiology of many rare diseases. Hence, the diagnosis and treatment options have been improved for a number of rare diseases. The collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases brought out significant results. Importantly, this collaboration contributed to the rare disease research by the identification of novel rare genetic disease-causing variations commonly in pediatric cases. Consequently, many pediatric unsolved cases have been diagnosed. The main scope of this article is to emphasize the outcomes of the collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases which contributed greatly to the scientific literature by identifying novel rare genetic disease-causing variation.\",\"PeriodicalId\":22379,\"journal\":{\"name\":\"The EuroBiotech Journal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2020-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The EuroBiotech Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2478/ebtj-2020-0020\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MULTIDISCIPLINARY SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The EuroBiotech Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2478/ebtj-2020-0020","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MULTIDISCIPLINARY SCIENCES","Score":null,"Total":0}
The Biennial report: The collaboration between MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases and Near East University DESAM Institute
Abstract Background Scientific collaboration is more common now than it was before. In many areas of biomedical science, collaborations between researchers with different scientific backgrounds and perspectives have enabled researchers to address complicated questions and solve complex problems. Particularly, international collaborations and improvements in science and technology have shed light on solving the mechanisms that are involved in the etiology of many rare diseases. Hence, the diagnosis and treatment options have been improved for a number of rare diseases. The collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases brought out significant results. Importantly, this collaboration contributed to the rare disease research by the identification of novel rare genetic disease-causing variations commonly in pediatric cases. Consequently, many pediatric unsolved cases have been diagnosed. The main scope of this article is to emphasize the outcomes of the collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases which contributed greatly to the scientific literature by identifying novel rare genetic disease-causing variation.