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 ...

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

Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin ...

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 ...

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 ...

Suzuki), and the Marfan Foundation (K.B. Ghaghada and Y. Li). If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Select your ...

Department of Neurology, Massachusetts General Hospital, Boston. (P.K., P.L.M.) Center for Genomic Medicine, Massachusetts General Hospital, Boston. (P.K., P.L.M ...

Endoscopic augmentation of the lower oesophageal sphincter using hydrogel implants for the treatment of gastro-oesophageal reflux disease IPG222 27 June 2007 27 June 2007 Carmustine implants and ...

Primary congenital glaucoma is a rare disease but has a major impact on the child’s development and quality of life over his/her whole life span. Early diagnosis and appropriate therapy can make a ...