Curative gene therapies for rare diseases

Gene discovery for rare diseases

Gene and splicing therapies for neuromuscular diseases.

Neuromuscular disorders (NMD) are heterogeneous group of genetic diseases characterized by muscle weakness and wasting. Duchenne Muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) are two of the most common and severe forms in humans and although the molecular mechanisms of these diseases have been extensively investigated, there is currently no effective treatment. However, new gene-ba...

Challenges in developing therapies for rare diseases including pachyonychia congenita.

The ability to attract sufficient resources to effectively develop therapeutics for rare diseases is a daunting task. This review summarizes existing resources for rare diseases and discusses some of the challenges and strategies associated with developing therapies for small patient populations with an emphasis on pachyonychia congenita.

Evolution of Curative Therapies For Atrial Fibrillation

Atrial fibrillation (AF) is one of the most common arrhythmias seen in clinical practice. The incidence of AF increases with age and is seen in up to 8.9% of individuals greater than 80 years of age.1 Although many treatment modalities are available for AF, curative therapy has recently become possible for some patients with atrial fibrillaton. This is partly due to the complexity and incomplet...

Cell based therapies in retinal diseases

Background Degenerative retinal diseases, including age related macular degeneration, glaucoma, and hereditary retinal dystrophies are major causes of blindness. The principal defect in these diseases is cell loss which is amenable to both cell based neuroprotective and neuroregenerative therapies. To briefly review the lines of research and potential candidates for cell based therapies among ...