Molecular Medicine and Health Biotechnology
Hospital Universitario La Paz
DESCRIPTION OF THE OFFER
Neuromuscular disorders are a clinically, pathologically and genetically heterogeneous group. Our work focuses on: Duchenne Muscular Dystrophy (DMD), myotonic dystrophy type I (Steinert´s disease), myotonia congenita and other myopathies, spastic paraparesis, ataxia and leukodystrophy diseases. For most of those diseases, diagnosis is laborious, expensive and difficult using standard techniques of molecular genetic. Next generation sequencing (NGS) improves diagnosis of these neuromuscular disorders. We use custom panels to detect pathological mutations, and a multidisciplinary approach to evaluate the clinical impact and establish genotype-phenotype correlations. Using different tools improves the complicate diagnosis of these disorders: clinical symptoms, diagnostic test such as electromyogram, inmunohistochemical studies, western blot, bioinformatics tools, etc… These tools help us classify variants and assess their pathogenity. The combination of conventional molecular techniques (PCR, microsatellites, Multiplex Ligation dependent Probe Amplification-MLPA, Triplet Repeat Primed PCR-TP PCR…), NGS and clinical and diagnostic test is essential for a correct diagnosis.