Today, anyone with a phone can toss pebbles of content into the sea of social media, making ripples far beyond their own circle. A short video or post can inspire empathy, challenge assumptions, or ...

Desmin-related myofibrillar myopathy is a progressive, hereditary disorder, that primarily affects skeletal, cardiac, and respiratory muscles. The condition is caused by pathogenic aberrations in the ...

The sources on MONDO:0018773 indicate HSPB8 as the causative gene, same as https://omim.org/entry/621078 on MONDO:0976133. And OMIM 621078 and Orpha 476093 https ...

1 Man, 3 Hearts: NJ Survivor Whose Story Touched Thousands Dies At 41 Christophe Lafontant, a New Jersey man who inspired thousands through his fight against rare disease, died on Sunday, April 27. He ...

Christophe Lafontant, a Fort Lee resident who spent much of his adulthood bound to a wheelchair and ventilator but channeled his challenges into motivational storytelling and supporting the medical ...

If your doctor has suggested that you may have a myopathy, you likely have a lot of questions. There are many types of myopathies with different causes and outlooks. Myopathies are a class of diseases ...

The typical Vermont country store exemplifies high touch, low tech, and the 181-year-old Lincoln General Store is no exception. In early October, its weathered red door bore a hand-drawn sign for this ...

How does a mother write her firstborn son’s obituary? How do I convey all that he was to us, all that he always will be long after he becomes only a memory to everyone else? He was born with a very ...

Success in obtaining orphan drug (a drug used for treating rare disease) designation will accelerate the approval process of the new drug, including speeding up of the review process, waiver of the ...