Rare Disease in the News
Medical Marketing and Media
Amicus Releases Positive Study Results On Rare Disease Drug
Amicus Therapeutics Amicus Therapeutics is this morning releasing data on its pill, migalastat, for Fabry disease, a rare genetic disorder in which fat builds up in the body, causing pain, hearing loss, clouded eyes, and, eventually kidney failure ...
Amicus sets sights on approval as rare disease pill clears Phase III
Amicus seeks to upset Fabry market
Amicus Rallies Pre-Market On Positive Phase-III Results
Trends in Rare Diseases – or why the ice bucket challenge is a cold dash of ...
Rare diseases are difficult to lump together. Depending on your definition of “rare” (it generally refers to a pathology affecting fewer than one person out of 2,000 or so), there are approximately seven thousand different medical conditions to consider.
Two Hawaii teenagers battle the same rare disease
Moyamoya Disease is a rare disorder caused by blocked arteries at the base of the brain. It affects 1-in-100,000 people. The word “moyamoya” means “puff of smoke” in Japanese and describes the look of the tangle of tiny vessels formed to compensate for ...
With nine surgeries, a Delhi woman fights a rare disease
New Delhi: Life cannot be more cruel to Payel Bhattacharya, a patient of Von Hippel-Lindau (VHL), a rare autosomal genetic condition that predisposes individuals to benign and malignant tumors. The 34-year-old, who has already undergone nine surgeries, ...
MGH helping DJ with rare disease beat odds
Neff had been diagnosed with amyloidosis — a rare disease that creates a buildup of proteins which interfere with the function of vital organs. In Neff's case, his heart was under attack. It's a “sneaky little disease,” Neff said, with indistinct ...
Set up special unit, plead kids with rare diseases
Times of India
But she carries an enlarged stomach because of a genetic disorder. Enlargement of the stomach and heart, bone problems and cataracts in childhood are the early warning signs, said experts here on Tuesday. The number of children with rare diseases, also ...
FDA Approves New Drug for Rare Genetic Disease
The Food and Drug Administration on Tuesday approved a new capsule-based drug to treat Gaucher's disease. Regulators approved the new drug, Cerdelga, for patients with the Type 1 form of the rare genetic disorder, which causes excess fat to build up in ...
New Genzyme drug for rare genetic disease gets FDA nod
Benefit targets Vittorio Ricci's rare disorder: Charcot-Marie-Tooth disease
The Salem News
However, for 16-year-old Vittorio Ricci of Boxford, it finally put a name to the symptoms he'd been experiencing for years. In the summer of 2012, Vittorio, then 14, was found to have Charcot-Marie-Tooth disease, he said. His diagnosis led to many ...
Avengers Assemble: Huxley Superheroes Raise Awareness for Rare Disease
HUXLEY, Iowa – It's every child's dream to be a superhero, but three kids from Huxley are the real deal. They call themselves the “Air Avengers.” “When I looked up the word, 'Avengers', it means, 'a team of super-heroes.' So we figured that couldn't be ...
Boy with rare disease sees community embrace his family
Conner was born with an extremely rare disease called osteogenesis imperfecta, or brittle bone disease. In his young life, he's broken nearly 100 bones from something as simple as a sneeze or a cough. It doesn't even take a hard fall to severely injure ...