Award-winning work
MOLECULAR GENETIC STUDY OF PATIENTS WITH USHER SYNDROME
Usher syndrome is an autosomal recessive disease characterised by neurosensory deafness, retinitis pigmentosa, and sometimes balance disorders. This is the main cause of blindness and deafness in Spain.
The rapid, effective detection of the mutations responsible for this syndrome is essential, as it allows the clinical diagnosis to be confirmed, the hereditary nature of the symptoms to be confirmed, and appropriate genetic counselling to be provided.
However, Usher syndrome is genetically a very heterogeneous syndrome with many genes involved, the molecular diagnosis of which is currently a long, costly process.
This led the Research Team to undertake extensive work to open up a hopeful pathway for progress in the genetic diagnosis of Usher syndrome and the establishing of prognoses.
The baseline hypothesis of the study is that determining the underlying defect of the disease in each patient, the gene involved, the specific mutations, their frequency, and the correlation of each of these mutations with the patient phenotype will allow for a disease database to be created among the Spanish population that will become the platform to meet two goals of health and social interest, among others:
- Development and assessment of reliable, rapid and low cost-effectiveness diagnostic tools for the genetic diagnosis of the disease
- Identification of new genes forming the Usher-interactome
The study was conducted on 444 patients and identified:
- The percentage of patients suffering from Usher syndrome, depending on the type of mutations in the genes identified to date
- A molecular diagnostic algorithm for the syndrome has been established, which will facilitate tracking of the underlying defect, pending the development of more effective diagnostic methods.
- A clinical and genetic database of Usher syndrome has been generated in Spain that will allow for homogeneous groups of patients to be created for future clinical trials based on advanced therapies.
Reference: Millán J.M. (2011): “Molecular genetic study of patients with Usher syndrome”. FIAPAS Journal, October-December 2011, No. 139, FIAPAS Supplement.