Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, ...

"It's estimated there are anywhere from 7,000 to 10,000 rare diseases, but there are only ICD codes for about 500 rare diseases." Researchers could obtain data on 379 rare diseases based on their ...

With over 40% of all medicines in the pipeline aimed at rare diseases, the future looks positive for increasing the number of treatments available. However, as Ben Hargreaves discovers ...

The Rare Disease Network, which includes Calvin University, Corewell Health Helen DeVos Children’s Hospital, MSU College of Human Medicine, Pine Rest Christian Mental Health Services and Van Andel ...

surgery and neuropathy can trigger Guillain-Barre Syndrome. He, however, appealed to the people not to panic saying that even though GBS is a rare disease and can be treated. Meanwhile ...

Rare diseases (RDs), more than 80% of which have a genetic origin, collectively affect approximately 350 million people worldwide. Progress in next-generation sequencing technology has both greatly ...

Turner syndrome is a rare genetic disorder found in some women ... of certain malformations of their heart and kidneys. Heart disease is a serious part of Turner syndrome. Up to 50% of those ...

News on rare diseases, including the development of new treatments, the challenges of diagnosis and treatment and the stories of patients and their families. The page features in-depth reporting ...

The recent outbreak of Guillain-Barré Syndrome (GBS) with 67 people being diagnosed with the rare neurological ... told The Indian Express that this is a ‘rare disease’ with an incidence of 0.1–2 per ...

That leads us to hope that we can eventually translate this into a durable therapy, not just for Prader-Willi syndrome patients, but for other rare genetic diseases that occur by a similar mechanism.

Today, the Governments of Canada and the province of Ontario signed the National Strategy for Drugs for Rare Disease (DRD) agreement to invest over $535 million over ... for the treatment of adult ...