文摘
摘要目的:建立精密医学为阿尔茨海默病和痴呆相关工作流(广告/ ADRDs)和评估其影响。
背景:广告/ ADRDs临床、病理和基因异质性。精密医学承诺个性化、病原学诊断和最终,靶向治疗。
设计/方法:27个参与者从休斯顿参加社区(n = 13)或神经学门诊(n = 14)休斯顿贝勒医学院或卫理公会医院,包括个人/ ADRD与现有的广告,轻度认首页知障碍(MCI),或没有已知的认知障碍(NCI)。参与者收到(i)综合神经和神经心理评估(NACC统一数据集),(2)脑MRI和淀粉样宠物,和(3)CAP-CLIA全基因组测序。基因组数据过滤使用虚拟基因小组专门为这个项目开发,包括公元219的原因/ ADRD、心血管疾病、痴呆或其它medically-actionable条件无关,连同3 ADRD /心血管风险基因。所有受试者同意全面披露痴呆的风险。
结果:参与者平均年龄= 70,41%女性,和报道混血/祖先(白= 66%,拉丁美洲裔= 18%,非洲裔美国人= 7%,亚洲= 7%)。后基线评估和神经影像生物标记之前,参与者广告(n = 7)的临床诊断,路易体痴呆(n = 1), MCI (n = 8), NCI (n = 11)。所有与会者都为阴性已知的单基因痴呆的原因。15人(56%)痴呆的风险将增加APOE;两个参与者进行脂蛋白(a)心血管风险等位基因;和三个人有医学上可操作的,ACMG-reportable二级发现。神经影像学研究目前正在审查,结果将病原学诊断使用2018 NIA-AA研究集成(A / T / N)框架。在公开访问,所有参与者将获得精确的诊断结果和个性化基因组风险报告。调查将评估观点包括感知经验,心理影响,自我效能感,生活质量,推进规划、和健康行为。
结论:总的来说,我们的经验和新兴的结果建立的可行性,并将通知实现精密神经学为痴呆。首页
披露:舒尔曼博士的机构已经收到了来自美国国立卫生研究院的研究支持。舒尔曼博士已经收到个人薪酬在10000 - 49999美元的范围与直升机医疗基金会担任顾问委员会成员。Vanegas-Arroyave博士的机构已经收到了来自美国国立卫生研究院的研究支持。杰米方已收到个人薪酬在500 - 4999美元的范围为Alector担任顾问。莎拉Elsea已收到个人薪酬在500 - 4999美元的范围为Dicerna担任顾问。莎拉Elsea已收到个人薪酬在500 - 4999美元的范围作为一个编辑,副主编,为前沿或编辑顾问委员会成员。莎拉Elsea的机构收到NIH的研究支持。莎拉Elsea的机构已经接到Speragen研究支持。莎拉·Elsea已收到的机构研究PTC的支持疗法。莎拉Elsea制度得到了研究棱镜的支持,公司制度的莎拉Elsea已收到研究Smith-Magenis综合征研究基金会的支持。 The institution of Sarah Elsea has received research support from Jerome Lejeune Foundation. Dr. Lin has a non-compensated relationship as a Secretary with Broadway for Ataxia Foundation (a 501 (c) (3) non-profit organization) that is relevant to AAN interests or activities. Hiba Saade has nothing to disclose. Miss Chavez has nothing to disclose. Ms. Walker has stock in Thermo Fisher Scientific. The institution of Ms. Walker has received research support from NIH - All of Us Program. Bo Yuan has nothing to disclose. Dr. Venner has stock in Codified Genomics. Dr. Hu has nothing to disclose. Mr. Levchenko has nothing to disclose. Dr. Smith has nothing to disclose. Ms. Robinson has nothing to disclose. The institution of Prof. Pascual has received research support from NIH. The institution of Prof. Pascual has received research support from NIH. The institution of Donna Muzny has received research support from NIH. Richard Gibbs has nothing to disclose. Dr. McGuire has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Danaher Life Sciences. Dr. McGuire has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Greenwall Foundation. Dr. McGuire has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for King and Spalding. Dr. McGuire has stock in Facebook. The institution of Dr. McGuire has received research support from NIH. The institution of Dr. McGuire has received research support from Greenwall Foundation. Dr. Masdeu has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen. The institution of Dr. Masdeu has received research support from NIH. The institution of Dr. Masdeu has received research support from Moody Foundation. The institution of Dr. Masdeu has received research support from Biogen. The institution of Dr. Masdeu has received research support from Eli Lilly. The institution of Dr. Masdeu has received research support from Eisai. The institution of Dr. Masdeu has received research support from Novartis. Dr. Masdeu has received publishing royalties from a publication relating to health care. Dr. Masdeu has received personal compensation in the range of $100,000-$499,999 for serving as a Director, Nantz Nal Alzheimer Center with HOUSTON METHODIST NEUROLOGICAL INSTITUTE.
