Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases
affect over 30 million Americans. For more than 30 years, hundreds of researchers have …

Hereditary genetic disorders, cancer, and infectious diseases of the liver affect millions of
people around the globe and are a major public health burden. Most contemporary …

This guideline describes the approach and expertise needed for the genetic evaluation of
cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the …

The gastrointestinal tract (GIT) affects not only local diseases in the GIT but also various
systemic diseases. Factors that can affect the health and disease of both GIT and the human …

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 …

A recently proposed therapeutic approach for lysosomal storage disorders (LSDs) relies
upon the ability of transcription factor EB (TFEB) to stimulate autophagy and induce …

Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase (GAA) is
deficient or absent. Deficiency of this lysosomal enzyme results in progressive expansion of …

Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the
lysosomal enzyme acid-a-glucosidase (GAA; EC 3.2. 1.20), leading to generalized …

A first-in-human trial of diaphragmatic gene therapy (AAV1-CMV-GAA) to treat respiratory
and neural dysfunction in early-onset Pompe disease was conducted. The primary objective …

Gene therapy strategies for congenital myopathies may require repeat administration of
adeno-associated viral (AAV) vectors due to aspects of the clinical application, such as:(i) …