Preclinical Research in Down Syndrome: From Bench to Bedside
暫譯: 唐氏症的臨床前研究：從實驗室到臨床

《唐氏症的臨床前研究：從實驗室到臨床，卷249》是《腦研究進展》系列的最新出版物，突顯了該領域的新進展。這本更新版的章節包括：探索唐氏症認知缺陷的遺傳和表觀遺傳機制、三體悖論：基因表達失調領域、唐氏症小鼠模型中的等位基因差異影響、在細胞中建模唐氏症：從幹細胞到類器官、從早期階段到新一代模型的動物唐氏症建模、在唐氏症動物模型中繪製行為景觀等。

- 由知名作者撰寫的內容，回顧臨床前研究的最新進展，並提供他們對該領域未來的看法和觀點
- 提供廣泛參考的章節，為讀者提供涵蓋主題的綜合資源列表
- 包含全面且深入的背景資訊，以清晰的形式撰寫，便於專家和非專家理解

Mara Dierssen is a Doctor in Medicine and Surgery from the University of Cantabria, (1989). She leads the Cellular and Systems Neurobiology laboratory at the Genomic Regulation Center (CRG) and is associate researcher of the Hospital del Mar Research Institute, where she promoted the creation of a translational research program to study new therapeutic approaches in intellectual disability. Her main current scientific interests are focused on the study of the neurobiological mechanisms underlying memory and learning and their alteration in complex diseases (polygenic and multifactorial) and in the development and application of this knowledge to the field of clinical practice.

Among her scientific contributions in the field of neurobiology and neuropharmacology is the identification of the alterations of neuroplasticity in various intellectual deficiencies and psychiatric pathology, and the determination of their molecular mechanisms. She is internationally recognized in the study of Down syndrome, whose findings, especially the involvement of the DYRK1A gene in the neuronal pathology of this syndrome, have had a direct impact on the identification of new pharmacological targets. Dr. Dierssen has demonstrated for the first time significant beneficial effects of a pharmacological treatment that improves neuroplasticity in the field of intellectual disability, a finding that has revolutionized the therapeutic approaches in cognitive disorders. Her scientific interest in innovating tools and strategies, incorporating brain-computer interface technologies to improve communication in patients with cerebral palsy, or cognitive stimulation videogames are also in the forefront of Neuroscience. He has published more than 160 research papers in indexed scientific journals. At present, the H index (Hirsch Factor) of Dr. Dierssen is 46.

Dr. Dierssen is one of the few Spanish members of the Europaea Academy of Sciences, and has held different positions of responsibility, being president of the Spanish Society of Neurosciences, the International Behavioral and Neural Genetics Society and the Trisomy 21 Research Society.

She has obtained the Ramon Trias Fargas Prizes, National Prize of Thought and Scientific Culture of the Generalitat of Catalonia, Jaime Blanco, Sisley-Lejeune Award, Hillie-Mahoney Award, Trebol Down Spain Award, Optimists Committed Award, Trifermed Social Impact of Healthcare Award, BigVang Medal
among others. She has been named Distinguished Student of the University of Cantabria, and is an honorary member of the College of Physicians. She is elected member of the European Allianz for the Brain (EDAB), founding member of the Spanish Association for the Advancement of Science, member of the Scientific Council of the Pla de Ciencia of Barcelona, among other positions.

She has held teaching positions at the Ramon Llull University, the Autonomous University of Barcelona and the University of Cantabria, and has directed more than 20 doctoral theses and trained a large number of researchers, most of whom run their own groups in prestigious centers.

Mara Dierssen 是來自坎塔布里亞大學的醫學與外科學博士（1989年）。她領導著基因組調控中心（CRG）的細胞與系統神經生物學實驗室，並且是馬爾醫院研究所的副研究員，在那裡她推動了創建一個轉譯研究計劃，以研究智力障礙的新治療方法。她目前的主要科學興趣集中在研究記憶和學習的神經生物學機制及其在複雜疾病（多基因和多因素）中的變化，以及將這些知識應用於臨床實踐的發展。

在神經生物學和神經藥理學領域，她的科學貢獻包括識別各種智力缺陷和精神病理學中神經可塑性的變化，以及確定其分子機制。她在唐氏症的研究中享有國際聲譽，尤其是DYRK1A基因在該綜合症神經病理學中的參與，這些發現對新藥物靶點的識別產生了直接影響。Dierssen博士首次證明了一種改善智力障礙神經可塑性的藥物治療的顯著有益效果，這一發現徹底改變了認知障礙的治療方法。她對創新工具和策略的科學興趣，包括將腦機介面技術應用於改善腦性麻痺患者的溝通，或認知刺激視頻遊戲，也在神經科學領域處於前沿。她在被索引的科學期刊上發表了超過160篇研究論文。目前，Dierssen博士的H指數（Hirsch Factor）為46。

Dierssen博士是歐洲科學院的少數西班牙成員之一，並擔任過不同的負責職位，包括西班牙神經科學學會、國際行為與神經遺傳學學會以及21三體研究學會的會長。

她獲得了拉蒙·特里亞斯·法爾加斯獎、加泰羅尼亞政府的國家思想與科學文化獎、哈梅·布蘭科獎、希斯利-勒儒恩獎、希利-馬霍尼獎、特雷布爾唐氏症西班牙獎、樂觀者承諾獎、Trifermed醫療保健社會影響獎、大爆炸獎章等。她被評為坎塔布里亞大學的傑出學生，並且是醫師公會的榮譽會員。她是歐洲大腦聯盟（EDAB）的當選成員、西班牙科學促進協會的創始成員、巴塞隆納科學計劃的科學委員會成員等。

她曾在拉蒙·盧爾大學、自主大學和坎塔布里亞大學擔任教學職位，並指導了超過20篇博士論文，培養了大量研究人員，其中大多數在知名中心運行自己的研究小組。