SUPR
Clinical Genetics
Dnr:

sens2017554

Type:

SNIC SENS

Principal Investigator:

Maria Wilbe

Affiliation:

Uppsala universitet

Start Date:

2017-12-07

End Date:

2024-06-01

Primary Classification:

30299: Other Clinical Medicine

Webpage:

Allocation

  • Castor /proj at UPPMAX: 16000 GiB
  • Cygnus /proj at UPPMAX: 16000 GiB
  • Castor /proj/nobackup at UPPMAX: 5000 GiB
  • Cygnus /proj/nobackup at UPPMAX: 5000 GiB
  • Bianca at UPPMAX: 20 x 1000 core-h/month

Abstract

The overall objective is to uncover genetic causes to unresolved recurrent intrauterine fetal death (IUFD) and neurodevelopmental disorders (NDD) using the advent of next-generation sequencing, specifically whole exome sequencing (WES) whole genome sequencing (WGS) and RNA sequencing. The specific aims of the study are to: • Identify genetic causes to unresolved recurrent IUFD and NDD. • Investigate gene expression in a zebra fish model of NDD by RNA sequencing. • Provide guidance for subsequent pregnancies, improved diagnostics and treatment of IUFD and NDD and finally implementation in the clinical setting. • Provide increased knowledge of embryogenesis and fundamental developmental processes. • Building a data analysis pipeline and reference database for use in research combined with clinical genetic testing.