塑造澳大利亚肾脏遗传学的未来：2023 年 KidGen 政策实施研讨会会议记录。

IF 3.8 3区医学 Q2 GENETICS & HEREDITY

Human Genomics Pub Date : 2024-08-17 DOI:10.1186/s40246-024-00656-y

Amali Mallawaarachchi, Erik Biros, Trudie Harris, Bruce Bennetts, Tiffany Boughtwood, Justine Elliott, Lindsay Fowles, Robert Gardos, Denisse Garza, Ilias Goranitis, Matilda Haas, Vanessa Huntley, Julia Jefferis, Karin Kassahn, Anna Leaver, Ben Lundie, Sebastian Lunke, Caitlin O'Connor, Greg Pratt, Catherine Quinlan, Dianne Shearman, Jacqueline Soraru, Madhivanan Sundaram, Michel Tchan, Giulia Valente, Julie White, Ella Wilkins, Steve I Alexander, Noa Amir, Stephanie Best, Hossai Gul, Kushani Jayasinghe, Hugh McCarthy, Chirag Patel, Zornitza Stark, Andrew J Mallett

{"title":"塑造澳大利亚肾脏遗传学的未来：2023 年 KidGen 政策实施研讨会会议记录。","authors":"Amali Mallawaarachchi, Erik Biros, Trudie Harris, Bruce Bennetts, Tiffany Boughtwood, Justine Elliott, Lindsay Fowles, Robert Gardos, Denisse Garza, Ilias Goranitis, Matilda Haas, Vanessa Huntley, Julia Jefferis, Karin Kassahn, Anna Leaver, Ben Lundie, Sebastian Lunke, Caitlin O'Connor, Greg Pratt, Catherine Quinlan, Dianne Shearman, Jacqueline Soraru, Madhivanan Sundaram, Michel Tchan, Giulia Valente, Julie White, Ella Wilkins, Steve I Alexander, Noa Amir, Stephanie Best, Hossai Gul, Kushani Jayasinghe, Hugh McCarthy, Chirag Patel, Zornitza Stark, Andrew J Mallett","doi":"10.1186/s40246-024-00656-y","DOIUrl":null,"url":null,"abstract":"The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising 19 kidney genetics clinics across Australia, all dedicated to providing equitable access to genomic testing for families affected by genetic kidney diseases. The workshop reflected on past progress and outlined future objectives for kidney genetics in Australia, recognising the collaborative efforts of clinical teams, researchers, and patients. Key insights from the workshop are documented in the proceedings.","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":null,"pages":null},"PeriodicalIF":3.8000,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330018/pdf/","citationCount":"0","resultStr":"{\"title\":\"Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.\",\"authors\":\"Amali Mallawaarachchi, Erik Biros, Trudie Harris, Bruce Bennetts, Tiffany Boughtwood, Justine Elliott, Lindsay Fowles, Robert Gardos, Denisse Garza, Ilias Goranitis, Matilda Haas, Vanessa Huntley, Julia Jefferis, Karin Kassahn, Anna Leaver, Ben Lundie, Sebastian Lunke, Caitlin O'Connor, Greg Pratt, Catherine Quinlan, Dianne Shearman, Jacqueline Soraru, Madhivanan Sundaram, Michel Tchan, Giulia Valente, Julie White, Ella Wilkins, Steve I Alexander, Noa Amir, Stephanie Best, Hossai Gul, Kushani Jayasinghe, Hugh McCarthy, Chirag Patel, Zornitza Stark, Andrew J Mallett\",\"doi\":\"10.1186/s40246-024-00656-y\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising 19 kidney genetics clinics across Australia, all dedicated to providing equitable access to genomic testing for families affected by genetic kidney diseases. The workshop reflected on past progress and outlined future objectives for kidney genetics in Australia, recognising the collaborative efforts of clinical teams, researchers, and patients. Key insights from the workshop are documented in the proceedings.\",\"PeriodicalId\":13183,\"journal\":{\"name\":\"Human Genomics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.8000,\"publicationDate\":\"2024-08-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330018/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human Genomics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s40246-024-00656-y\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Genomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s40246-024-00656-y","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

KidGen 协作组织 2023 年政策实施研讨会庆祝了澳大利亚首家肾脏遗传诊所在布里斯班成立十周年。此次活动标志着一个全国性网络的建立，该网络目前由澳大利亚各地的 19 家肾脏遗传学诊所组成，所有诊所都致力于为受遗传性肾脏疾病影响的家庭提供公平的基因组检测机会。研讨会回顾了过去的进展，概述了澳大利亚肾脏遗传学的未来目标，肯定了临床团队、研究人员和患者的共同努力。研讨会的主要观点记录在会议记录中。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.

The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising 19 kidney genetics clinics across Australia, all dedicated to providing equitable access to genomic testing for families affected by genetic kidney diseases. The workshop reflected on past progress and outlined future objectives for kidney genetics in Australia, recognising the collaborative efforts of clinical teams, researchers, and patients. Key insights from the workshop are documented in the proceedings.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Human Genomics GENETICS & HEREDITY-

CiteScore

6.00

自引率

2.20%

发文量

审稿时长

11 weeks

期刊介绍： Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.