Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a congenital metabolic disorder that leads to the accumulation of partially degraded heparan sulfate, which triggers neurodegeneration.

Congenital fiber type disproportion (CFTD) is a disorder characterized by the atrophy of slow-twitch type 1 muscle fibers.

The National Institute of Neurological Disorders and Stroke (NINDS) has awarded a 3-year grant totaling approximately $4.1 million to the Research Institute at Nationwide Children’s Hospital to fund completion of preclinical studies, manufacturing and preparation of an IND application for a first-in-human trial to advance adeno-associated virus (AAV)-ATP7A gene therapy for the treatment of Menkes disease.

A male patient who harbored a deletion in the intron 7-exon 8 region of the dystrophin gene, DMD, was showing symptoms that matched with Becker muscular dystrophy.

Fibrocor Therapeutics Inc. has entered into a research and development collaboration with the Mcquade Center for Strategic Research and Development LLC (MSRD).

Neurenati Therapeutics has closed its seed funding round, securing CA$1.2 million (US$884,000) to advance development of therapies for various rare diseases, including pediatric conditions.

An Italian group of researchers has used zinc finger editing to silence the PCSK9 gene and improve blood cholesterol levels in mice by applying a single dose of their modifier. The epigenetic-based method could be an alternative to genome editing.