Precision medicine and rare diseases in pediatric urology

被引：1

作者：

Nordgren, Ann ^{[1
,2
,3
,4
]}

Lindstrand, Anna ^{[1
,2
,5
]}

Wu, Hsi-Yang ^{[6
]}

Fossum, Magdalena ^{[7
,8
,9
,10
]}

机构：

[1] Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden

[2] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

[3] Univ Gothenburg, Inst Biomed, Dept Lab Med, Gothenburg, Sweden

[4] Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden

[5] Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden

[6] Brown Univ, Div Urol, Providence, RI USA

[7] Karolinska Inst, Ctr Mol Med, Dept Womens & Childrens Hlth, Stockholm, Sweden

[8] Univ Copenhagen, Fac Hlth & Med Sci, Lab Tissue Engn, Rigshosp, Copenhagen, Denmark

[9] Rigshosp, Copenhagen Univ Hosp, Dept Pediat Surg, Copenhagen, Denmark

[10] Rigshosp, Copenhagen Univ Hosp, Dept Pediat Surg, DK-2100 Copenhagen, Denmark

来源：

JOURNAL OF PEDIATRIC UROLOGY | 2023年 / 19卷 / 03期

关键词：

Precision medicine; Pediatric urology; Rare diseases; Clinical genetics;

D O I：

10.1016/j.jpurol.2023.03.010

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Precision Medicine holds promise for helping us manage specific phenotypes of common diseases. For rare diseases such as hypospadias, DSD, and pediatric solid tumors, it can also reveal underlying risk factors and pathogenesis. Professors Ann Nordgren and Anna Lindstrand share their experi-ences in the development and ongoing initiatives of the Swedish national project on Precision Medicine and how it could change the care of pediatric urol-ogy patients.

引用

页码：335 / 338

页数：4

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