Developmental Disorders: From Diagnosis to Mechanism via Cis-Regulation

发育障碍：通过顺式调节从诊断到机制

• 批准号: MC_UU_00007/3
• 负责人: David FitzPatrick
• 金额: $ 389.01万
• 依托单位: University of Edinburgh
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2018
• 资助国家: 英国
• 起止时间: 2018 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MC_UU_00007%2F3
• 关键词: Developmental; Disorders; Diagnosis; Mechanism; via

The FitzPatrick group use DNA sequencing technologies and advanced analytics to understand the causes of severe diseases affecting babies and children. They are particularly focussed on two groups of diseases. Firstly severe birth defects affecting both eyes (missing eyes, very small eyes, structurally abnormal eyes). The other group is children with severe intellectual disability and poor growth. They wish to understand how and why these disorders occur “out of the blue” and what are the underlying problems that occur to cells during development that results in the problems that are apparent at birth.

菲茨帕特里克团队使用DNA测序技术和先进的分析技术来了解影响婴儿和儿童的严重疾病的原因。他们特别关注两类疾病。首先是严重的出生缺陷，影响双眼（眼睛缺失，眼睛非常小，眼睛结构异常）。另一类是严重智力残疾、发育不良的儿童。他们希望了解这些疾病是如何以及为什么“突然”发生的，以及在发育过程中细胞发生的潜在问题是什么，导致出生时明显的问题。

项目成果

IMPROVE-DD: Integrating Multiple Phenotype Resources Optimises Variant Evaluation in genetically determined Developmental Disorders

IMPROVE-DD：整合多种表型资源优化遗传决定的发育障碍的变异评估

• DOI: 10.1101/2022.05.20.22275135
• 发表时间: 2022
• 作者: Aitken S

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

• DOI: 10.1371/journal.pone.0256181
• 发表时间: 2021
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Bengani H;Grozeva D;Moyon L;Bhatia S;Louros SR;Hope J;Jackson A;Prendergast JG;Owen LJ;Naville M;Rainger J;Grimes G;Halachev M;Murphy LC;Spasic-Boskovic O;van Heyningen V;Kind P;Abbott CM;Osterweil E;Raymond FL;Roest Crollius H;FitzPatrick DR
• 通讯作者: FitzPatrick DR

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

短读长全基因组测序可识别大多数患有先前无法解释的无虹膜的个体的致病变异。

• DOI: 10.1136/jmg-2023-109181
• 发表时间: 2023
• 期刊: Journal of medical genetics
• 影响因子: 4
• 作者: Hall HN

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

对基因组非编码区域中发现的变异进行临床解释的建议

• DOI: 10.1101/2021.12.28.21267792
• 发表时间: 2021
• 作者: Ellingford J