Bleeding- and coagulation disorders in children

Project: Research

Description

Hemophilia – genetic studies
The general aim of this research program is to improve genetic diagnosis and counselling by studies of the molecular biology, pathogenetic mechanisms and evolutionary history of haemophilia A and B using the databases of mutations we have established comprising all Swedish families with haemophilia A or B and novel DNA-techniques.

Specific aims
- Identification of the cause of haemophilia in patients with mutations that are not identified using conventional mutation screening by using a set of overlapping long-range PCR (LRPCR) as well as next generation sequencing on an Ion Torrent PGM sequencer.
- Identification of genes and mutations contributing to the development of inhibitors following FVIII treatment by whole genome sequencing and haplotype analysis of a unique material of DNA from siblings concordant/dis-concordant for development of neutralising antibodies to coagulation Factor VIII
StatusNot started

Collaborative partners

Participants