Research projects

The specific aims of this project are:

1. To consolidate a network of doctors for rare iron metabolism diseases, with the aim of recruiting patients with these rare pathologies.
2. To establish molecular screening for gene mutations known to be involved in rare iron metabolism diseases.
3. To identify new human genes involved in rare iron metabolism diseases using exome sequencing by specific capture and massive parallel sequencing (MPS).
4. To characterise in functional terms new genes causing rare iron metabolism diseases and new mutations found in genes that have already been described.

Results

1. The Grupo Ibérico de Ferropatología (GIF, Iberian Iron Pathology Group) was recently created. The number of professionals in this network has now increased and it currently contains 90 medical specialists in 53 Spanish and Portuguese hospitals and centres. The network has been updated and major reforms have taken place to make it easier to keep its content up-to-date. The GIF web site: http://www.imppc.org/gif/web/
2. To establish molecular screening for genes known to be involved in rare iron metabolism diseases. The mutational screening for 19 genes involved in rare iron metabolism diseases has been established. In 3 of these genes Sanger sequencing is being optimised, as there are regions which are very difficult to sequence based on their DNA, and this may be due to a high CG content or the presence of homologous sequences within the genome.
3. To identify new human genes involved in rare iron metabolism diseases using exome sequencing by specific capture and massive parallel sequencing (MPS). In a small subgroup of well-characterised patients in whom no genetic cause was identified using the approach described in point 2, the whole exome is being sequenced by massive parallel sequencing (MPS) using an Illumina sequencer. There are currently 4 patients in the process of undertaking exome-MPS, and moreover the experimental part has been completed for an additional patient. The next step will be to carry out the initial biocomputation analyses.
4. To characterise in functional terms new genes causing rare iron metabolism diseases and new mutations found in genes that have already been described. A study has been completed of 2 new mutations found in the ferritine L gene (zone of the IRE in the 5' UTR) which causes the Hereditary Hyperferritinaemia Syndrome with cataracts in two families (one Spanish and one German).