The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
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DOI：
10.1002/ajmg.a.62716
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发表时间：
2022-06
影响因子：
2
通讯作者：
Zenker, Martin
中科院分区：
文献类型：
--
作者：
Kontaridis, Maria, I;Roberts, Amy E.;Schill, Lisa;Schoyer, Lisa;Stronach, Beth;Andelfinger, Gregor;Aoki, Yoko;Axelrad, Marni E.;Bakker, Annette;Bennett, Anton M.;Broniscer, Alberto;Castel, Pau;Chang, Caitlin A.;Cyganek, Lukas;Das, Tirtha K.;den Hertog, Jeroen;Galperin, Emilia;Garg, Shruti;Gelb, Bruce D.;Gordon, Kristiana;Green, Tamar;Gripp, Karen W.;Itkin, Maxim;Kiuru, Maija;Korf, Bruce R.;Livingstone, Jeff R.;Lopez-Juarez, Alejandro;Magoulas, Pilar L.;Mansour, Sahar;Milner, Theresa;Parker, Elisabeth;Pierpont, Elizabeth, I;Plouffe, Kevin;Rauen, Katherine A.;Shankar, Suma P.;Smith, Shane B.;Stevenson, David A.;Tartaglia, Marco;Van, Richard;Wagner, Morgan E.;Ware, Stephanie M.;Zenker, Martin
关键词：
RASopathies是一组遗传性疾病，由影响经典Ras/丝裂原活化蛋白激酶（MAPK）信号通路的基因引起。尽管在理解这些遗传异常的分子后果方面取得了巨大进展，但在将这些发现转化为临床方面却进展甚微。今年，第七届国际RASopathies研讨会的重点是扩大我们多年来获得的研究知识，以加强该领域的新发现，我们希望这些发现可以导致有效的治疗方法。事实上，第一次，研究工作终于被转化为临床，同情地使用Ras/MAPK通路抑制剂治疗RASopathies。这个一年两次的会议由RASopathies网络组织，汇集了基础科学家，临床医生，临床科学家，患者，倡导者及其家属，以及来自制药公司和美国国立卫生研究院的代表。讨论了RAS病基因发现的历史、新疾病基因的鉴定以及在实验室和临床上的最新研究。
RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen‐activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed.
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