The fast progress made in studying the Human Genome and the enormous technological development on molecular genetics of the last few years have provided knowledge and tools for genetic diagnostics on a considerable number of pathologies making diagnosis, prevention and appropriate therapy possible, working alongside with the clinic specialists.
Clinical genetics have evolved considerably to the point of knowing the genetic cause (mutations in a gene or genes) of many hereditary diseases and many population variants have been determined that explain a predisposition to suffering illnesses with a clear environmental influence, knowing how effective the pharmacological functions might be depending on the personal genome (pharmacogenomics), etc.
The HRI Biodonostia Molecular Diagnostics Platform focuses its services on the molecular study of different genetic pathologies.
FSHD Diagnose
The Facioscapulohumeral Muscular Dystrophy (FSHD) diagnosis stands out within the HRI Biodonostia portfolio. This disease is the third most common muscular dystrophy after the Duchenne Muscular Dystrophy and the Myotonic dystrophy. Since 2002 the Platform is categorized as a Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) diagnose benchmark center in Spain which is linked to the 4 cromosome (OMIM 158900). Hitherto, more than 3.000 FHSD1 individual studies have been achieved.
Orphanet FSHD file (in Spanish)
ASEM FSHD file (in Spanish)
A small number of patients (5%), both sporadic and familial cases, with a phenotype similar to FSHD1 do not exhibit the D4Z4 contraction on chromosome 4 and have mutations in the SMCHD1 gene located on chromosome 18. This gene is necessary for a methylation of the D4Z4 region and this entity has been called FSHD2. To date we have performed the molecular study of FSHD2 in more than a hundred individuals negative for FSHD1.
FSHD Diagnose flowchat (in Spanish)
FSHD related bibliography
The recent foundation of the Spanish FSHD Association (FSHD-Spain) was an important milestone in the FSHD fight. Visit its Website or Facebook Profile to learn more about the association. 
The Molecular Diagnostics Platform has the technology required for molecular diagnostics plus some specific apparatus for a variety of techniques such as the case of Pulsed Field Gel Electrophoresis (PFGE) and other Nuclear Medicine services to use radioactivity in diagnosing Facioscapulohumeral Muscular Dystrophy (FSHD)
What is more, the Platform receives technological support from the Biodonostia HRI Genomic Platform. For instance, in 2014 sequencing service of the SMCHD1 gene, linked to Facioscapulohumeral muscular dystrophy type 2, was set up from that platform using massive sequencing technology (Ion Torrent).
Moreover, the Computational Biology Platform of the Biodonostia HRI creates synergies and enlarges the efforts made by the Genomic and Molecular Diagnosis Platforms when analyzing large-scale biological datasets that include data quality assessment, comprehensive analysis, results interpretation, communication and presentation in meaningful formats.
