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自闭症谱系障碍中的环境表观基因组学研究:专访法拉·R·扎希尔。

Understanding environmental epigenomics in autism spectrum disorder: an interview with Farah R Zahir.

机构信息

Department of Medical Genetics, University of British Colombia, Vancouver, V6H 3N1, BC, Canada.

出版信息

Epigenomics. 2021 Sep;13(17):1341-1345. doi: 10.2217/epi-2021-0319. Epub 2021 Sep 23.

DOI:10.2217/epi-2021-0319
PMID:34553604
Abstract

In this interview, Dr Farah R Zahir speaks with Storm Johnson, Commissioning Editor for , on her work to date in the field of epigenomics, autism and intellectual disability. Dr Farah R Zahir specializes in the identification of novel genetic and epigenetic causes for neurodevelopmental diseases. Her PhD, awarded in 2011 by the University of British Columbia (UBC), resulted in the characterization of new intellectual disability (ID) syndromes, as well as discovery of several new causative genes for the disorder. She was awarded the prestigious James Miller Memorial Prize for integrating basic and clinical science in 2010. Her PhD dissertation was nominated for the Governor General's gold medal - the highest possible accolade at UBC for doctoral research work. She then completed a postdoctoral tenure in Canada's premier Michael Smith Genome Sciences Centre, where she used whole-genome-sequencing methods to comprehensively assess genetic, molecular and structural causes for ID, employing several firsts for bioinformatic data mining in the field. During her postdoctorate she won three distinguished awards and was a fellow of the Canadian Institute of Health Research, ranking in the top 2% nationally. Dr Zahir was appointed as an Assistant Professor at the Hamad Bin Khalifa University in 2016, where she led a group focused on neurogenomics and neuroepigenomics research. She was a founding member of the Precision and Genomics Medicine graduate program there. Currently she has rejoined UBC's department of Medical Genetics. Among her most significant achievements is the establishment of the novel Zahir Friedman syndrome, an intellectual disability/autism spectrum disorder syndrome that is caused by a major epigenomic regulator. Her current primary research interest is how epigenomics can be changed by environmental impacts and how these effects may be harnessed for neurodevelopmental disorders' prophylaxis and therapeutics.

摘要

在本次访谈中,Farah R Zahir 博士与 的特约编辑 Storm Johnson 就她在表观基因组学、自闭症和智力残疾领域的工作进行了交谈。Farah R Zahir 博士专注于识别神经发育疾病的新的遗传和表观遗传原因。她于 2011 年在不列颠哥伦比亚大学(UBC)获得博士学位,其研究成果描绘了新的智力残疾(ID)综合征,并发现了几个导致该疾病的新致病基因。她于 2010 年因整合基础和临床科学而获得享有盛誉的 James Miller Memorial 奖。她的博士论文获得了加拿大总督金牌奖的提名,这是 UBC 博士研究工作的最高荣誉。随后,她在加拿大首屈一指的迈克尔史密斯基因组科学中心完成了博士后任期,在那里她使用全基因组测序方法全面评估 ID 的遗传、分子和结构原因,并在该领域首次进行了生物信息学数据挖掘。在她的博士后生涯中,她获得了三个杰出奖项,并成为加拿大卫生研究院的研究员,在全国排名前 2%。Zahir 博士于 2016 年被任命为哈马德·本·哈利法大学的助理教授,在那里她领导了一个专注于神经基因组学和神经表观基因组学研究的小组。她是那里精准和基因组医学研究生课程的创始成员之一。目前,她已重返 UBC 医学遗传学系。她最显著的成就是建立了新的 Zahir Friedman 综合征,这是一种由主要表观遗传调节剂引起的智力残疾/自闭症谱系障碍综合征。她目前的主要研究兴趣是环境影响如何改变表观基因组学,以及如何利用这些影响来预防和治疗神经发育障碍。

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