New pharmaceuticals identified to cure rare diseases

Using a novel strategy based on small RNA, Franco Pagani's and his  Human Molecular Genetics Group, work to find a new therapy for spinal muscular atrophy.

The Group has received important recognition of its innovative capacity to conduct research for new therapies to cure rare diseases. The American Muscular Dystrophy Association (MDA) has awarded USD 220,000 for the next 3 years for the study of a novel therapeutic stratey for spinal muscular atrophy. At the same time, the first results of the research underway have been published in the prestigous scientific journal Nature Communications.

This year the American MDA, which promotes research in neuromuscular diseases, has awarded only one project in Italy of the 41 selected at an international level. Pagani and his Group will study a novel therapeutic strategy for spinal muscular atrophy with the objective to develop a more effective therapy compared to the drugs that are currently at the clinical experimentation phase.

The Group has been perfecting "molecular bullets" for several years; small, therapeutic molecules of ribonucleic acid (U1 RNA) to cure rare diseases and correct defects at the base. Apart from spinal muscular atrophy, novel molecules are being studied for personalised therapeutic purposes in hemophelia, cystic fibrosis, skin diseases and familial dysautonomia. The work of the Group, which has authored this important study published in Nature Communications, involves the creation of a U1 RNA molecule able to repair the damage caused by the mutation present in the SMN2 gene in spinal muscular atrophy. Thus demonstrating for the first time the theraupetic efficacy of this novel class of pharmaceuticals in models of the disease. The molecule has led to the correction of the process of maturation of the RNA messenger by re-establishing the production of the SMN protein, which is missing in patients.


Further reading:

Muscular Dystrophy Association: Grants at a Glance

Nature Communications: Rogalska, M.E., Tajnik, M., Licastro, D., Bussani, E., Camparini, L., Mattioli, C. and Pagani, F. (2016) Therapeutic activity of modified U1 core spliceosomal particles.  Nat Commun, DOI: 10.1038/ncomms11168 (PubMed link)


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