Projektinformation
Beskrivning
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
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
| Status | Ej startat |
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Samarbetspartner
- Lunds universitet
- Kristianstad University
- PedNet Haemophilia Registry (huvudsaklig)