Advances in human genetics are improving the understanding of a variety of inherited
cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular …

Recent years have seen tremendous progress towards therapy of many previously incurable
neuromuscular diseases. This new context has acted as a driving force for the development …

Familial dysautonomia (FD) is a rare neurological disorder caused by a splice mutation in
the IKBKAP gene. The mutation arose in the 1500s within the small Jewish founder …

Duchenne muscular dystrophy is one of the most common inherited genetic diseases and is
caused by mutations to the DMD gene that encodes the dystrophin protein. Recent …

Duchenne and Becker muscular dystrophy (DMD and BMD) are related disorders that occur
because of mutations in the DMD gene, encoding the dystrophin protein. DMD is more …

Current clinical treatments for central nervous system (CNS) diseases, such as Parkinson's
disease and glioblastoma do not halt disease progression and have significant treatment …

Cystic fibrosis (CF), the most common life‐threatening genetic disease in Caucasians, is
caused by∼ 2,000 different mutations in the CF transmembrane conductance regulator …

Duchenne muscular dystrophy is a genetically determined X-linked disease and the most
common, progressive pediatric muscle disorder. For decades, research has been conducted …

Advances in genomics are enhancing our understanding of the genetic basis of
cardiovascular diseases, both congenital and acquired, and stroke. These advances include …

Spinal muscular atrophy (SMA) is one of the most common genetic causes of infantile death
arising due to mutations in the SMN1 gene and the subsequent loss of motor neurons. With …