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P024: Clinical utility in hospital-wide use of GDF15 as a biomarker for mitochondrial DNA encoded primary mitochondrial disorders P024：在医院范围内使用GDF15作为线粒体DNA编码的原发性线粒体疾病的生物标志物的临床应用
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102868
Andrea Cortes Fernandez , Jane Estrella , Devin Oglesbee , Austin Larson , Johan Van Hove
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引用次数: 0
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships ClinGen综合征疾病基因管理专家小组：评估111个基因与疾病关系的临床有效性
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.103429
Eleanor C. Broeren , Vanessa N. Gitau , Alicia B. Byrne , Pamela Ajuyah , Marie B. Balzotti , Jonathan S. Berg , Krista Bluske , B. Monica Bowen , Matthew P. Brown , Amanda Buchanan , Brendan T. Burns , Nicole J. Burns , Anjana Chandrasekhar , Aditi Chawla , Jessica X. Chong , Maya Chopra , Amanda R. Clause , Marina T. DiStefano , Stephanie DiTroia , Marwa A. Elnagheeb , Alison J. Coffey
{"title":"The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships","authors":"Eleanor C. Broeren ,&nbsp;Vanessa N. Gitau ,&nbsp;Alicia B. Byrne ,&nbsp;Pamela Ajuyah ,&nbsp;Marie B. Balzotti ,&nbsp;Jonathan S. Berg ,&nbsp;Krista Bluske ,&nbsp;B. Monica Bowen ,&nbsp;Matthew P. Brown ,&nbsp;Amanda Buchanan ,&nbsp;Brendan T. Burns ,&nbsp;Nicole J. Burns ,&nbsp;Anjana Chandrasekhar ,&nbsp;Aditi Chawla ,&nbsp;Jessica X. Chong ,&nbsp;Maya Chopra ,&nbsp;Amanda R. Clause ,&nbsp;Marina T. DiStefano ,&nbsp;Stephanie DiTroia ,&nbsp;Marwa A. Elnagheeb ,&nbsp;Alison J. Coffey","doi":"10.1016/j.gimo.2025.103429","DOIUrl":"10.1016/j.gimo.2025.103429","url":null,"abstract":"<div><h3>Purpose</h3><div>The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders Gene Curation Expert Panel (SD-GCEP) was formed to address an unmet need.</div></div><div><h3>Methods</h3><div>The SD-GCEP applied ClinGen’s framework to evaluate the clinical validity of genes associated with rare syndromic disorders. A total of 111 gene-disease relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.</div></div><div><h3>Results</h3><div>From April 2020 through March 2024, 38 precurations were performed on genes with multiple disease relationships and were reviewed to determine if the disorders were part of a spectrum or distinct entities. A total of 14 genes were lumped into a single disease entity, and 24 were split into separate entities, of which 11 were curated by the SD-GCEP. A full review of 111 GDRs for 100 genes followed, with 78 classified as Definitive, 9 as Strong, 15 as Moderate, and 9 as Limited, highlighting cases in which further data are needed. All diseases involved 2 or more organ systems, whereas the majority (88/111 GDRs, 79.2%) had 5 or more organ systems affected.</div></div><div><h3>Conclusion</h3><div>The SD-GCEP addresses a critical gap in gene curation efforts, enabling inclusion of genes for syndromic disorders in clinical testing and contributing to keeping pace with the rapid discovery of new genetic syndromes.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 103429"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144123629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
6: Exon-level copy-number variants: The penultimate frontier in copy-number analysis? 6：外显子级拷贝数变异：拷贝数分析的倒数第二前沿？
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101923
Timothy Fee, Benjamin Hilton, Barbara DuPont
{"title":"6: Exon-level copy-number variants: The penultimate frontier in copy-number analysis?","authors":"Timothy Fee,&nbsp;Benjamin Hilton,&nbsp;Barbara DuPont","doi":"10.1016/j.gimo.2024.101923","DOIUrl":"10.1016/j.gimo.2024.101923","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101923"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562212","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
20: Think before you toss: Analysis of DNA and RNA from methanol-acetic acid fixed cell pellets 20：三思而后行：甲醇-乙酸固定细胞颗粒的DNA和RNA分析
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101937
Monique A. Morrison , Heather Amidon , Kevin Valencia , Michael S. Mullen , Holli M. Drendel , Virginia C. Thurston
{"title":"20: Think before you toss: Analysis of DNA and RNA from methanol-acetic acid fixed cell pellets","authors":"Monique A. Morrison ,&nbsp;Heather Amidon ,&nbsp;Kevin Valencia ,&nbsp;Michael S. Mullen ,&nbsp;Holli M. Drendel ,&nbsp;Virginia C. Thurston","doi":"10.1016/j.gimo.2024.101937","DOIUrl":"10.1016/j.gimo.2024.101937","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101937"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562011","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
38: Adoption of the ACMG and ClinGen copy number variant (CNV) technical standards in clinical genetic laboratories in the United States 38 .美国临床遗传实验室采用ACMG和ClinGen拷贝数变异（CNV）技术标准
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101955
Alexis Williams , Teresa A. Smolarek , Melanie Myers , Stephanie Balow , Leandra Tolusso , Valentina Pilipenko
{"title":"38: Adoption of the ACMG and ClinGen copy number variant (CNV) technical standards in clinical genetic laboratories in the United States","authors":"Alexis Williams ,&nbsp;Teresa A. Smolarek ,&nbsp;Melanie Myers ,&nbsp;Stephanie Balow ,&nbsp;Leandra Tolusso ,&nbsp;Valentina Pilipenko","doi":"10.1016/j.gimo.2024.101955","DOIUrl":"10.1016/j.gimo.2024.101955","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101955"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562014","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
24: Challenges in detection of higher copy sex chromosome aneuploidy by cfDNA screening: the critical role of diagnostic testing 24: cfDNA筛查检测高拷贝性染色体非整倍体的挑战：诊断检测的关键作用
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101941
Lauren A. Choate , Courtney Studwell , David T. Miller , Anne B.S. Giersch , Samantha L.P. Schilit , Heather M. Mason-Suares
{"title":"24: Challenges in detection of higher copy sex chromosome aneuploidy by cfDNA screening: the critical role of diagnostic testing","authors":"Lauren A. Choate ,&nbsp;Courtney Studwell ,&nbsp;David T. Miller ,&nbsp;Anne B.S. Giersch ,&nbsp;Samantha L.P. Schilit ,&nbsp;Heather M. Mason-Suares","doi":"10.1016/j.gimo.2024.101941","DOIUrl":"10.1016/j.gimo.2024.101941","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101941"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562032","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
P008: A first in human, single arm, open label phase 1/2 study evaluating ECUR-506 in neonatal OTC Deficiency: Initial Observations P008：首次在人类，单臂，开放标签1/2期研究评估ECUR-506治疗新生儿OTC缺乏症：初步观察
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102852
Julien Baruteau , Gabriel Cohn , Anil Dhawan , Anupam Chakrapani , Stephanie Grunewald , Molly Abbott , Helen Ashton , Sophie Foxall , Ai Ling Koh , Christos Lazaridis , Havea Navarro-Kennedy , Hamza Patel , Siyamini Sivananthan , Eleni Tamvaki , Katy Vecchiato , Matthew Hall , Karen Kuhn , Thomas White , Barbara Pinho , George Diaz
{"title":"P008: A first in human, single arm, open label phase 1/2 study evaluating ECUR-506 in neonatal OTC Deficiency: Initial Observations","authors":"Julien Baruteau ,&nbsp;Gabriel Cohn ,&nbsp;Anil Dhawan ,&nbsp;Anupam Chakrapani ,&nbsp;Stephanie Grunewald ,&nbsp;Molly Abbott ,&nbsp;Helen Ashton ,&nbsp;Sophie Foxall ,&nbsp;Ai Ling Koh ,&nbsp;Christos Lazaridis ,&nbsp;Havea Navarro-Kennedy ,&nbsp;Hamza Patel ,&nbsp;Siyamini Sivananthan ,&nbsp;Eleni Tamvaki ,&nbsp;Katy Vecchiato ,&nbsp;Matthew Hall ,&nbsp;Karen Kuhn ,&nbsp;Thomas White ,&nbsp;Barbara Pinho ,&nbsp;George Diaz","doi":"10.1016/j.gimo.2025.102852","DOIUrl":"10.1016/j.gimo.2025.102852","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102852"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143635817","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
P044: Exploring the use of emergency investigational new drug therapy in 3 pediatric patients with inborn errors of metabolism P044：探讨急诊研究性新药治疗小儿先天性代谢异常3例
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102888
Neil Jacob , Mary LoPiccolo , Eva Morava-Kosicz , Ibrahim Elsharkawi
{"title":"P044: Exploring the use of emergency investigational new drug therapy in 3 pediatric patients with inborn errors of metabolism","authors":"Neil Jacob ,&nbsp;Mary LoPiccolo ,&nbsp;Eva Morava-Kosicz ,&nbsp;Ibrahim Elsharkawi","doi":"10.1016/j.gimo.2025.102888","DOIUrl":"10.1016/j.gimo.2025.102888","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102888"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636501","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
P037: In vitro evaluation of drug–drug interaction potential of doxecitine and doxribtimine in thymidine kinase 2 deficiency (TK2d) P037：多西汀和多西布替明治疗胸苷激酶2缺乏症（TK2d）的药物相互作用潜力的体外评价
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102881
Aravind Mittur , Pam Santiago , Melanie Golding
{"title":"P037: In vitro evaluation of drug–drug interaction potential of doxecitine and doxribtimine in thymidine kinase 2 deficiency (TK2d)","authors":"Aravind Mittur ,&nbsp;Pam Santiago ,&nbsp;Melanie Golding","doi":"10.1016/j.gimo.2025.102881","DOIUrl":"10.1016/j.gimo.2025.102881","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102881"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636567","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
P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases P090: SC4MOL缺乏：第11例报告患者治疗结果更新和报告病例回顾
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102934
Elizabeth Null , Erika Beckman , Christina Lam
{"title":"P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases","authors":"Elizabeth Null ,&nbsp;Erika Beckman ,&nbsp;Christina Lam","doi":"10.1016/j.gimo.2025.102934","DOIUrl":"10.1016/j.gimo.2025.102934","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102934"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636597","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
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