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Most relevant scientific articles
• Moya P., Salazar J., Arranz M.J., Diaz-Torne C., Del Rio E., Casademont J. et al. Methotrexate pharmacokinetic genetic variants are associated with outcome in rheumatoid arthritis patients. Pharmacogenomics. 2016;17(11):11-25.
• Diaz-Manera J., Alejaldre A., Gonzalez L., Olive M., Gomez-Andres D., Muelas N. et al. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes. Neuromuscular Disorders. 2016;26(1):33-40.
• Hollestelle A., Van Der Baan F.H., Berchuck A., Johnatty S.E., Aben K.K., Agnarsson B.A. et al. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecologic Oncology. 2016;141(2):386-401.
• Medrano S., Monges S., Gravina L.P., Alias L., Mozzoni J., Araoz H.V. et al. Genotype–phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina. European Journal of Paediatric Neurology. 2016;20(6):910-917.
Hightlights
The U705 developed its research and clinical diagnosis in rare diseases in neuromuscular and hematological diseases, Pharmacogenetics and Oncogenetics during 2016. The results of our research activity produced in this period of time have been published in international scientific journals.
The U705 members participate in several projects with funding from both the competitive agencies (FIS/ ISCIII, ACCI, Ministerio de Sanidad, Servicios Sociales e Igualdad y Fundación Mutua Madrileña), and also donations from private companies (PTC-citius Pharma). Notably, many of the projects funded are being conducted in collaboration with other CIBERER Units and clinical groups.
The Unit continues to participate in activities started in previous years such as: clinical trials in spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD) and Pharmacogenetics; international registries –the DMD Registry (TREAT-NMD) and the National Registry of SMA patients-; and collaborations with scientific societies and patient associations –the ASEM and the SEN-.
A new interdisplinary committee for the study of hereditary hearing loss has been created with close collaboration between Otorhinolaryngology, Ophthalmology, and Genetics (U705) Services of our Hospital. This is in addition to our continuing participation in clinical committees on genodermatoses and pediatrics, and interhospital meetings on neuromuscular diseases in which the U703 and U732 Units also collaborate.
Regarding training, a PhD thesis has been defended and two courses have been organized: “Haciendo camino hacia la Farmacogenética” and “Curso avanzado en medicina personalizada: implementación de biomarcadores genéticos en la práctica clínica”. The Unit has also continued to hold the seminar cycle in which researchers of other CIBERER Units participate.
In support of the teaching activity organized by CIBERER, a presentation was given at the conference
“II Jornadas de Investigación Traslacional en Enfermedades Raras: Últimos Avances en Enfermedades Neuromusculares”.
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