Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases ...

Marfan syndrome (MS) is an autosomal dominant disease characterised ... MS is an inherited disorder of connective tissue with musculoskeletal, cardiac and ocular abnormalities. Mutation of the FBN1 ...

Ionis and Ultragenyx are competing to develop oligonucleotide treatments for Angelman syndrome, but will Neuren’s peptide ...

POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.

People with the rare Li-Fraumeni syndrome (LFS) have a high risk of developing cancer. Almost all those affected will develop ...

Abstract Rare and common genetic variants contribute to the risk of atrial fibrillation (AF). Although ion channels were among the first AF candidate genes identified, rare loss-of-function variants ...

It is important to identify infants of affected women as high-risk infants. Scrutinize the maternal history and, when possible, determine the specific EDS type of the mother or affected family ...

Kennedy Jr. addressed the worsening avian flu crisis, saying vaccinating birds turns them into “mutation factories." Instead, he recommends letting the birds who survive the virus continue to breed.

In adults the joint pain and fatigue associated with hypermobility-type EDS can be misdiagnosed as chronic fatigue syndrome, hypochondriasis, or depression. [25] Vascular-type EDS may also be ...

Aortopathy can be a sporadic/degenerative, nonsyndromic heritable thoracic aortic disease or familial disease, including Marfan syndrome or Loeys-Dietz syndrome. The estimated composite death rate of ...