A drug screening platform to assess effect of genetic variation on liver enzyme activity

我是剑桥大学斯里兰卡出生的生物信息学/机器学习科学家，也是Pentail Enzymes Ltd的两位联合创始人之一，Pentail Enzymes Ltd是一家总部位于剑桥的生物技术初创公司，致力于开发工具和产品，为代表性不足的人群提供精准医疗。2018年，我与联合创始人Paulo Amaral博士（分子遗传学家）一起成立了这个跨学科企业，以解决目前用于药物安全性和有效性测试的市售细胞系产品以及临床试验参与者缺乏种族遗传多样性的问题。这意味着黑人和少数族裔（BAME）群体从精准医学中受益的药物基因组学见解有限。如果少数民族群体没有得到适当的代表，并且来自不同遗传背景的结果被用来告知他们的治疗，这可能不是个性化的，并且可能是有害的。该项目的目标是评估开发一个综合技术平台的可行性，以产生高价值的药物基因组学见解，为临床试验分层提供信息，并改善代表性不足人群的治疗选择。

I am a Sri Lankan-born bioinformatics/machine learning scientist at the University of Cambridge and one of two co-founders of Pentail Enzymes Ltd, a Cambridge-based biotech startup developing tools and products to enable precision medicine for underrepresented populations. I was driven to set up this interdisciplinary enterprise with my co-founder Dr. Paulo Amaral (a molecular geneticist) in 2018 to address the current lack of ethnic genetic diversity in commercially available cell line products used for drug safety and efficacy testing, and of clinical trial participants which means there are limited pharmacogenomic insights for Black and Minority Ethnic (BAME) populations to benefit from precision medicine. If ethnic minority groups are not appropriately represented and results derived from a different genetic background to them are used to inform their treatments, this might not be as personalised and be potentially harmful. The goal of this project is to assess the feasibility of developing an integrated technology platform to generate high-value pharmacogenomics insights to inform clinical trial stratification and improve treatment options for underrepresented populations.