UCLA clinical site for the investigation of undiagnosed disorders

加州大学洛杉矶分校临床中心，用于调查未确诊疾病

• 批准号: 10874104
• 负责人: JULIAN ANTONIO MARTINEZ
• 金额: $ 31.18万
• 依托单位: UNIVERSITY OF CALIFORNIA LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-15 至 2025-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10874104
• 关键词: Address; Affect; Cardiomyopathies; Clinic; Clinical; Consumption; DNA; Diagnosis; Disease; Disease Management; Evaluation; Family; Financial Hardship; Gastroenterology; Genetic Diseases; Genetic Medicine; Genomics; Goals; Guidelines; Healthcare Systems; Human Genome; Immunology; Individual; Infrastructure; Insurance; Investigation; Laboratories; Medical; Medical Records; Modeling; Neurology; Outcome; Participant; Patients; Performance; Phenotype; Rare Diseases; Research; Standardization; Symptoms; System; Taxes; Telemedicine; Testing; Time; Translational Research; Untranslated RNA; Work; cancer predisposition; care providers; clinical investigation; clinical phenotype; clinical practice; clinical research site; cost; data integration; genetic variant; health disparity populations; improved; innovation; integration site; meetings; neurodevelopment; neuromuscular; phenotypic data; psychologic; rare genetic disorder; recruit; remote assessment; transcriptomics; working group

Contact PD/PI: Nelson, Stanley F. Project Summary / Abstract Undiagnosed diseases take a disproportionate toll on the health care system and on affected patients and families. The UCLA Clinical Site of the UDN has successfully participated in the formation and management of the UDN through UDN Steering Committee, Working Groups, UDN meetings, and innovation in genomic analysis. We propose here to recruit, select, evaluate, and follow at least 15 participants in the project period, and abide by all UDN guidelines. We will specifically recruit individuals from health disparity populations. We will work with the UDN Coordinating Center to review and accept cases for evaluation at UCLA with a special emphasis on disorders related to: neurology, neurodevelopment, hemihypertrophy, cancer predisposition, neuromuscular, cardiomyopathy, immunology, gastroenterology, or genetic diseases. We will maximize the use of telemedicine, remote assessments, and performance of directed clinical tests within medical systems available to participants (i.e., in network care providers). The UCLA Clinical site will coordinate activities to obtain comprehensive and integrated phenotypic information and augment this with research testing, genomic analysis not covered by insurance, and advanced genomic interpretation of non-coding DNA through transcriptomic assessments within the UCLA UDN Clinic in a sustainable manner. Our proposal addresses the overarching goals of the UDN as an integrated research enterprise within clinical practice to identify the causes of undiagnosed diseases by 1) collecting standardized, high-quality phenotypic data on rare disease patients 2) improving the efficiency of diagnosis through relevant medical records review/team discussion, and integration with transcriptomics to improve interpretation of genomic sequencing, and 3) working within the overall UDN to promote integration of data across its network to enhance understanding of rare diseases and mechanisms. We continue to reach these overarching goals by implementing the following specific aims: Aim 1: Implement a UDN clinic model that functions locally and network-wide; Aim 2: Investigate the clinical phenotypes of new and rare disorders; Aim 3: Investigate the underlying mechanisms of new and rare disorders; Aim 4: Build and refine a network-wide sustainable infrastructure for translational research on new and rare disorders. Project Summary/Abstract Page 6

联络PD/PI: Nelson， Stanley F。

项目成果

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.

DDX53 的遗传变异导致与 Xp22.11 基因座相关的自闭症谱系障碍。

• DOI: 10.1101/2023.12.21.23300383
• 发表时间: 2023
• 期刊: medRxiv : the preprint server for health sciences
• 作者: Scala,Marcello;Bradley,ClarrisaA;Howe,JenniferL;Trost,Brett;Salazar,NelsonBautista;Shum,Carole;Reuter,MiriamS;MacDonald,JeffreyR;Ko,SangyoonY;Frankland,PaulW;Granger,Leslie;Anadiotis,George;Pullano,Verdiana;Brusco,Alfredo
• 通讯作者: Brusco,Alfredo