Blog Archives
A new step forward to gene-medicine for AFM-Telethon : to produce and cure
AFM-Telethon has decided to take up a new challenge: to produce gene-medicines from innovative biotherapies developed in the laboratories part of its Biotherapies Institute for Rare Diseases at an industrial scale, and to give patients suffering from rare genetic diseases access to them at a fair and contained price. With this in view, the association … [Read more]
Myotonic dystrophies: call for proposals for strategic translational projects
Launch of a call for proposals for strategic translational projects in myotonic dystrophies The AFM-Telethon is launching a call for proposals for strategic translational projects dedicated to the development of new therapies for myotonic dystrophy. The call for proposals will be launched on October 15, 2015. The deadline for submitting applications is December 18, 2015. … [Read more]
Dr Edoardo Malfatti awarded “Young Myologist of the Year” at the WMS Congress 2015
Dr Edoardo Malfatti, Neurologist at the Morphological Unit of the Institute, has been awarded with the President’s Prize for the “Young Myologist of the Year” at the World Muscle Society International Congress held in Brighton, UK, from the 30th to the 4th of October 2015. This prestigious award has been attributed to Dr Malfatti thank … [Read more]
Efficacy of combined cell and gene therapy in a murine model of merosin-deficient congenital muscular dystrophy type 1A
Merosin-deficient congenital muscular dystrophy type-1A (MDC1A) is characterised by progressive muscular dystrophy and dysmyelinating neuropathy caused by mutations of the α2 chain of laminin-211, the predominant laminin isoform of muscles and nerves. MDC1A has no available treatment so far, although preclinical studies showed amelioration of the disease by the overexpression of miniagrin (MAG). MAG reconnects … [Read more]
Effect of modified antisense oligonucleotides on DM1 skeletal muscle
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults. DM1 is caused by an expanded CTG repeat in the 3′- untranslated region of DMPK, the gene encoding Dystrophia Myotonica-Protein Kinase. ASOs containing constrained ethyl-modified (cEt) residues exhibit significantly increased RNA binding affinity and in vivo potency relative to those … [Read more]
Reducing the IGF-1 signaling pathway exerts a neuroprotective effect in SMA
No therapy is currently available for spinal muscular atrophy (SMA), a neuromuscular disease characterised by the selective loss of spinal motor neurons due to the depletion of the survival of motor neuron (SMN) protein and the leading genetic cause of death in childhood. The present study reports that insulin-like growth factor-1 receptor (Igf-1r) gene expression … [Read more]
A simplified guide to comprehensive care for DMD
Duchenne muscular dystrophy (DMD) is a progressive, life-limiting muscle-wasting disease. Although no curative treatment is yet available, comprehensive multidisciplinary care has increased life expectancy significantly in recent decades. An international consensus care publication in 2010 outlined best-practice care, which includes corticosteroid treatment, respiratory, cardiac, orthopedic and rehabilitative interventions to address disease manifestations. While disease specialists … [Read more]
Considerations for performing orthognathic surgery in patients with congenital myopathies and congenital muscular dystrophies
This case series examined preoperative findings and the surgical, anesthetic, and postoperative management of 6 patients with congenital myopathies (CMs) and congenital muscular dystrophies (CMDs) treated at a tertiary medical institution with orthognathic surgery over 15 years to describe pertinent considerations for performing orthognathic surgery in these complex patients. Patients with CMs or CMDs often … [Read more]
A novel mutation in troponin T1 causes nemaline myopathy
Nemaline myopathy is a rare disorder characterized by skeletal muscle weakness of varying severity and onset, with the presence of nemaline rods on muscle biopsy. Congenital nemaline body myopathy due to mutations in TNNT1 has hitherto only been described as a result of a single founder mutation in patients of Amish origin and in 2 … [Read more]
Spotlight on myofibrillar myopathies
Myofibrillar myopathies (MFM) were described in the mid-1990s as a group of diseases sharing common histological features, including an abnormal accumulation of intrasarcoplasmic proteins, the presence of vacuoles and a disorganisation of the intermyofibrillar network beginning at the Z-disk. The boundaries of this concept are still uncertain, and whereas six genes (DES, CRYAB, LDB3/ZASP, MYOT, … [Read more]
