Myology research highlights

Orphanet has published List of Research Infrastructures useful to Rare Diseases in Europe. This useful list is arranged by country and provides an exhaustive list of facilities that are extremely vital for rare disease research. Orphanet performs a systematic survey of the literature to provide an estimate of the prevalence of rare diseases in Europe. … [Read more]

Horizon 2020 is the biggest EU Research and Innovation programme ever with nearly €80 billion of funding available over 7 years (2014 to 2020) – in addition to the private investment that this money will attract. It promises more breakthroughs, discoveries and world-firsts by taking great ideas from the lab to the market. By coupling … [Read more]

Phosphorodiamidate morpholino oligomer (PMO)-mediated exon skipping is among the more promising approaches to the treatment of several neuromuscular disorders including Duchenne muscular dystrophy. The main weakness of this approach arises from the low efficiency and sporadic nature of the delivery of charge-neutral PMO into muscle fibers, the mechanism of which is unknown. In this study, … [Read more]

Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein. Ataluren (PTC124) enables ribosomal readthrough of premature stop codons, leading to production of full-length, functional proteins. This Phase 2a open-label, sequential … [Read more]

The slow a-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). Here, the authors describe a patient presenting an early-onset congenital myopathy associated with a combination of well-separated cap structures and nemaline bodies in his muscle biopsy. Exome sequencing analysis allowed … [Read more]

Multinational pharmaceutical company Eli Lilly is conducting a phase 3 trial of the drug tadalafil (Cialis), which may help regulate blood flow to muscles, in approximately 300 boys with Duchenne muscular dystrophy (DMD) who are 7-14 years old, able to walk, have adequate cardiac function and meet other study criteria. The rationale for using tadalafil … [Read more]

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease affecting lower motor neurons. SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene, which result in reduced levels of functional SMN protein. Biochemical studies have linked the ubiquitously expressed SMN protein to the assembly of pre-mRNA processing U snRNPs, raising the possibility … [Read more]

Human pluripotent stem cells (hPSCs) constitute a promising resource for use in cell-based therapies and a valuable in vitro model for studying early human development and disease. Despite significant advancements in the derivation of specific fates from hPSCs, the generation of skeletal muscle remains challenging and is mostly dependent on transgene expression. Here, the authors … [Read more]

Genzyme and the National Organization for Rare Disorders (NORD) announced the creation of a fund to pay for standard diagnostic testing for people with rare, undiagnosed medical conditions. The fund will help those who have applied to the NIH Undiagnosed Diseases Program, but who cannot afford the basic medical tests needed to make them eligible … [Read more]

As 2013 draws to a close, EU countries are busy formulating, adopting, implementing, or renewing their strategies for providing care and services to rare disease patients as urged via the Council Recommendation of 8 June 2009 on an action in the field of rare diseases. On 22 November 2013, the United Kingdom Department of Health … [Read more]