Genome editing has the potential to treat an extensive range of incurable monogenic and
complex diseases. In particular, advances in sequence-specific nuclease technologies have …

To date, almost 2600 gene therapy clinical trials have been completed, are ongoing or have
been approved worldwide. Our database brings together global information on gene therapy …

Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has
been known for over 75 years. While an optimist might be excited about the advances made …

Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …

Adeno-associated virus (AAV) has shown promising therapeutic efficacy with a good safety
profile in a wide range of animal models and human clinical trials. With the advent of …

Neuromuscular disorders are often caused by heterogeneous mutations in large, structurally
complex genes. Targeting compensatory modifier genes could be beneficial to improve …

Gene therapy has entered a new era after decades-long efforts, where the recombinant
adeno-associated virus (AAV) has stood out as the most potent vector for in vivo gene …

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …

Transcription of expanded microsatellite repeats is associated with multiple human
diseases, including myotonic dystrophy, Fuchs endothelial corneal dystrophy, and C9orf72 …

Molecular screens comparing different disease states to identify candidate genes rely on the
availability of fast, reliable and multiplexable systems to interrogate genes of interest …