Cambridge prisms, Precision medicine最新文献_第3页

Mendelian randomization as a tool to inform drug development using human genetics. 孟德尔随机化作为一种工具，为利用人类遗传学进行药物开发提供信息

Cambridge prisms, Precision medicine Pub Date : 2023-02-08 eCollection Date: 2023-01-01 DOI: 10.1017/pcm.2023.5

Iyas Daghlas, Dipender Gill

{"title":"Mendelian randomization as a tool to inform drug development using human genetics.","authors":"Iyas Daghlas, Dipender Gill","doi":"10.1017/pcm.2023.5","DOIUrl":"10.1017/pcm.2023.5","url":null,"abstract":"Drug development is essential to the advancement of human health, however, the process is slow, costly, and at high risk of failure at all stages. A promising strategy for expediting and improving the probability of success in the drug development process is the use of naturally randomized human genetic variation for drug target identification and validation. These data can be harnessed using the Mendelian randomization (MR) analytic paradigm to proxy the lifelong consequences of genetic perturbations of drug targets. In this review, we discuss the myriad applications of the MR paradigm for human drug target identification and validation. We review the methodology and applications of MR, key limitations of MR, and potential future opportunities for research. Throughout the review, we refer to illustrative examples of MR analyses investigating the consequences of genetic inhibition of interleukin 6 signaling which, in some cases, have anticipated results from randomized controlled trials. As human genetic data become more widely available, we predict that MR will serve as a key pillar of support for drug development efforts.","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e16"},"PeriodicalIF":0.0,"publicationDate":"2023-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48007394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Precision diagnostics in children. 儿童精准诊断

Cambridge prisms, Precision medicine Pub Date : 2023-02-03 eCollection Date: 2023-01-01 DOI: 10.1017/pcm.2023.4

Paul Dimitri

{"title":"Precision diagnostics in children.","authors":"Paul Dimitri","doi":"10.1017/pcm.2023.4","DOIUrl":"10.1017/pcm.2023.4","url":null,"abstract":"Medical practice is transforming from a reactive to a pro-active and preventive discipline that is underpinned by precision medicine. The advances in technologies in such fields as genomics, proteomics, metabolomics, transcriptomics and artificial intelligence have resulted in a paradigm shift in our understanding of specific diseases in childhood, greatly enhanced by our ability to combine data from changes within cells to the impact of environmental and population changes. Diseases in children have been reclassified as we understand more about their genomic origin and their evolution. Genomic discoveries, additional 'omics' data and advances such as optical genome mapping have driven rapid improvements in the precision and speed of diagnoses of diseases in children and are now being incorporated into newborn screening, have improved targeted therapies in childhood and have supported the development of predictive biomarkers to assess therapeutic impact and determine prognosis in congenital and acquired diseases of childhood. New medical device technologies are facilitating data capture at a population level to support higher diagnostic accuracy and tailored therapies in children according to predicted population outcome, and digital ecosystems now tailor therapies and provide support for their specific needs. By capturing biological and environmental data as early as possible in childhood, we can understand factors that predict disease or maintain health and track changes across a more extensive longitudinal path. Data from multiple health and external sources over long-time periods starting from birth or even in the in utero environment will provide further clarity about how to sustain health and prevent or predict disease. In this respect, we will not only use data to diagnose disease, but precision diagnostics will aid the 'diagnosis of good health'. The principle of 'start early and change more' will thus underpin the value of applying a personalised medicine approach early in life.","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e17"},"PeriodicalIF":0.0,"publicationDate":"2023-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44339135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical application of circulating cell-free lymphoma DNA for fast and precise diagnosis of Burkitt lymphoma: Precision medicine for sub-Saharan Africa. 循环无细胞淋巴瘤DNA在快速准确诊断伯基特淋巴瘤中的临床应用:撒哈拉以南非洲地区的精准医学

Cambridge prisms, Precision medicine Pub Date : 2023-01-13 eCollection Date: 2023-01-01 DOI: 10.1017/pcm.2023.1

Clara Chamba, Sam M Mbulaiteye, Emmanuel Balandya, Anna Schuh

引用次数: 0

COVID-19 host genetics and ABO blood group susceptibility. 新冠肺炎宿主基因与ABO血型易感性

Cambridge prisms, Precision medicine Pub Date : 2023-01-10 eCollection Date: 2023-01-01 DOI: 10.1017/pcm.2022.12

David Ellinghaus

{"title":"COVID-19 host genetics and ABO blood group susceptibility.","authors":"David Ellinghaus","doi":"10.1017/pcm.2022.12","DOIUrl":"10.1017/pcm.2022.12","url":null,"abstract":"Twenty-five susceptibility loci for SARS-CoV-2 infection and/or COVID-19 disease severity have been identified in the human genome by genome-wide association studies, and the most frequently replicated genetic findings for susceptibility are genetic variants at the ABO gene locus on chromosome 9q34.2, which is supported by the association between ABO blood group distribution and COVID-19. The ABO blood group effect appears to influence a variety of disease conditions and pathophysiological mechanisms associated with COVID-19. Transmission models for SARS-CoV-2 combined with observational public health and genome-wide data from patients and controls, as well as receptor binding experiments in cell lines and human samples, indicate that there may be a reduction or slowing of infection events by up to 60% in certain ABO blood group constellations of index and contact person in the early phase of a SARS-CoV-2 outbreak. The strength of the ABO blood group effect on reducing infection rates further depends on the distribution of the ABO blood groups in the respective population and the proportion of blood group O in that population. To understand in detail the effect of ABO blood groups on COVID-19, further studies are needed in relation to different demographic characteristics, but also in relation to recent data on reinfection with new viral variants and in the context of the human microbiome.","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e10"},"PeriodicalIF":0.0,"publicationDate":"2023-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41993365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Advancing Precision Medicine in Paediatrics: Past, present and future. 推进儿科精准医学；过去、现在和未来

Cambridge prisms, Precision medicine Pub Date : 2023-01-10 eCollection Date: 2023-01-01 DOI: 10.1017/pcm.2022.14

Abdelbaset Elzagallaai, Charlotte Barker, Tamorah Lewis, Ronald Cohn, Michael Rieder

{"title":"Advancing Precision Medicine in Paediatrics: Past, present and future.","authors":"Abdelbaset Elzagallaai, Charlotte Barker, Tamorah Lewis, Ronald Cohn, Michael Rieder","doi":"10.1017/pcm.2022.14","DOIUrl":"10.1017/pcm.2022.14","url":null,"abstract":"Precision Medicine is an approach to disease treatment and prevention taking into account individual genetic, environmental, therapeutic and lifestyle variability for each person. This holistic approach to therapeutics is intended to enhance drug efficacy and safety not only across healthcare systems but for individual patients. While weight and to some extent gestational age have been considered in determining drug dosing in children, historically other factors including genetic variability have not been factored into therapeutic decision making. As our knowledge of the role of ontogeny and genetics in determining drug efficacy and safety has expanded, these insights have provided new opportunities to apply principles of Precision Medicine to the care of infants, children and youth. These opportunities are most likely to be achieved first in select sub-groups of children. While there are many challenges to the successful implementation of Precision Medicine in children including the need to ensure that Precision Medicine enhances rather than reduces equity in children's health care rather, there are many more opportunities. Research, advocacy, planning and teamwork are required to move Precision Medicine forward in children in pursuit of the common goal of safe and effective drug therapy.","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e11"},"PeriodicalIF":0.0,"publicationDate":"2023-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45183724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Editorial on polygenic risk scores -colloquium held at the Centre for Personalised Medicine, Oxford 关于多基因风险评分的社论-在牛津个性化医学中心举行的讨论会

Cambridge prisms, Precision medicine Pub Date : 2023-01-01 DOI: 10.1017/pcm.2023.22

Padraig Dixon, Sarah Briggs, Anneke Lucassen

引用次数: 0

Delivery of Precision Medicine - Cambridge Prisms: Precision Medicine Webinar Event Transcript 交付精准医学-剑桥棱镜:精准医学网络研讨会事件记录

Cambridge prisms, Precision medicine Pub Date : 2023-01-01 DOI: 10.1017/pcm.2023.21

Munir Pirmohamed, Matt Prime, Dianne Nicol, Bass Hassan, Harper Vansteenhouse, Anna Dominiczak, Laetitia Beck, Jessica K. Jones

引用次数: 0

Applications of artificial intelligence in dementia research. 人工智能在痴呆症研究中的应用

Cambridge prisms, Precision medicine Pub Date : 2022-12-06 eCollection Date: 2023-01-01 DOI: 10.1017/pcm.2022.10

Kelvin K F Tsoi, Pingping Jia, N Maritza Dowling, Jodi R Titiner, Maude Wagner, Ana W Capuano, Michael C Donohue

{"title":"Applications of artificial intelligence in dementia research.","authors":"Kelvin K F Tsoi, Pingping Jia, N Maritza Dowling, Jodi R Titiner, Maude Wagner, Ana W Capuano, Michael C Donohue","doi":"10.1017/pcm.2022.10","DOIUrl":"10.1017/pcm.2022.10","url":null,"abstract":"More than 50 million older people worldwide are suffering from dementia, and this number is estimated to increase to 150 million by 2050. Greater caregiver burdens and financial impacts on the healthcare system are expected as we wait for an effective treatment for dementia. Researchers are constantly exploring new therapies and screening approaches for the early detection of dementia. Artificial intelligence (AI) is widely applied in dementia research, including machine learning and deep learning methods for dementia diagnosis and progression detection. Computerized apps are also convenient tools for patients and caregivers to monitor cognitive function changes. Furthermore, social robots can potentially provide daily life support or guidance for the elderly who live alone. This review aims to provide an overview of AI applications in dementia research. We divided the applications into three categories according to different stages of cognitive impairment: (1) cognitive screening and training, (2) diagnosis and prognosis for dementia, and (3) dementia care and interventions. There are numerous studies on AI applications for dementia research. However, one challenge that remains is comparing the effectiveness of different AI methods in real clinical settings.","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e9"},"PeriodicalIF":0.0,"publicationDate":"2022-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45255106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Precision mitochondrial medicine. 精准线粒体医学

Cambridge prisms, Precision medicine Pub Date : 2022-11-15 eCollection Date: 2023-01-01 DOI: 10.1017/pcm.2022.8

Patrick F Chinnery

引用次数: 0

Artificial intelligence for early detection of renal cancer in computed tomography: A review. 人工智能用于癌症计算机断层扫描早期检测的研究进展

Cambridge prisms, Precision medicine Pub Date : 2022-11-11 eCollection Date: 2023-01-01 DOI: 10.1017/pcm.2022.9

William C McGough, Lorena E Sanchez, Cathal McCague, Grant D Stewart, Carola-Bibiane Schönlieb, Evis Sala, Mireia Crispin-Ortuzar

{"title":"Artificial intelligence for early detection of renal cancer in computed tomography: A review.","authors":"William C McGough, Lorena E Sanchez, Cathal McCague, Grant D Stewart, Carola-Bibiane Schönlieb, Evis Sala, Mireia Crispin-Ortuzar","doi":"10.1017/pcm.2022.9","DOIUrl":"10.1017/pcm.2022.9","url":null,"abstract":"Renal cancer is responsible for over 100,000 yearly deaths and is principally discovered in computed tomography (CT) scans of the abdomen. CT screening would likely increase the rate of early renal cancer detection, and improve general survival rates, but it is expected to have a prohibitively high financial cost. Given recent advances in artificial intelligence (AI), it may be possible to reduce the cost of CT analysis and enable CT screening by automating the radiological tasks that constitute the early renal cancer detection pipeline. This review seeks to facilitate further interdisciplinary research in early renal cancer detection by summarising our current knowledge across AI, radiology, and oncology and suggesting useful directions for future novel work. Initially, this review discusses existing approaches in automated renal cancer diagnosis, and methods across broader AI research, to summarise the existing state of AI cancer analysis. Then, this review matches these methods to the unique constraints of early renal cancer detection and proposes promising directions for future research that may enable AI-based early renal cancer detection via CT screening. The primary targets of this review are clinicians with an interest in AI and data scientists with an interest in the early detection of cancer.","PeriodicalId":72491,"journal":{"name":"Cambridge prisms, Precision medicine","volume":" ","pages":"e4"},"PeriodicalIF":0.0,"publicationDate":"2022-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49112958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0