Precision medicine and rare diseases in pediatric urology

Ann Nordgren; Anna Lindstrand; Hsi-Yang Wu; Magdalena Fossum

doi:10.1016/j.jpurol.2023.03.010

Precision medicine and rare diseases in pediatric urology

J Pediatr Urol. 2023 Jun;19(3):335-338. doi: 10.1016/j.jpurol.2023.03.010. Epub 2023 Mar 11.

Authors

Ann Nordgren¹, Anna Lindstrand², Hsi-Yang Wu³, Magdalena Fossum⁴

Affiliations

¹ Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden. Electronic address: ann.nordgren@ki.se.
² Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden. Electronic address: anna.lindstrand@ki.se.
³ Division of Urology, Brown University, Providence, RI, USA. Electronic address: hsiyangwu@yahoo.com.
⁴ Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Laboratory of Tissue Engineering Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Department of Pediatric Surgery, Copenhagen University Hospital, Rigshospitalet, Denmark. Electronic address: maria.magdalena.fossum@regionh.dk.

PMID: 37002030
DOI: 10.1016/j.jpurol.2023.03.010

Abstract

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 experiences in the development and ongoing initiatives of the Swedish national project on Precision Medicine and how it could change the care of pediatric urology patients.

Keywords: Clinical genetics; Pediatric urology; Precision medicine; Rare diseases.

MeSH terms

Humans
Hypospadias*
Male
Precision Medicine
Rare Diseases / therapy
Risk Factors
Urology*