Rare Disease in the News
Technology Allows Boy With Rare Disease To Speak
Technology Allows Boy With Rare Disease To Speak. Chapin, SC (WLTX) -- When doctors diagnosed 1-year-old Leo Bugenske with Spinal Muscular Atrophy (SMA), his family was told he wouldn't be able to do much, he wouldn't even be able to speak.
Route 66 bicycle trip raising awareness for rare disease
An Oregon couple are biking along historic Route 66 from Chicago to Santa Monica, California, to raise awareness and money for a rare genetic condition that afflicts their grandnephew in Issaquah. The 2,400-mile, five-state journey of Jean and Bruce ...
Cute Knut the polar bear died of rare disease
Cute Knut the polar bear died of rare disease. Knut suffered from anti-NMDA receptor encephalitis, autoimmune disease discovered in humans only eight years ago and never before seen in animals. Share on Facebook ...
Why Knut the Polar Bear Died So Suddenly
Mystery of Knut's death is finally solved: Polar bear cub collapsed and died ...
Polar-bear mystery solved: Cute cub Knut died of autoimmune disease
Sister donates bone marrow to girl battling rare disease
Hayden, left, was found to be a perfect match to donate bone marrow to her sister Sydney, right. (MyFoxBoston.com). A 7-year-old Massachusetts girl is celebrating a week home with her family after undergoing a lifesaving bone marrow transplant which ...
For a rare disease, drug trials scramble for patients
After years of effort, scientists and families of young patients with the genetic condition Niemann-Pick Type C are in a position to which any rare-disease community aspires: the prospect of not one, not two, but three companies launching clinical ...
Boy with rare disease proves doctors wrong, scores touchdown
(August 25, 2015) – Ben Holloway was 3-years-old when he was diagnosed with dural arteriovenous fistula (dAVF) in April 2014. dAVF is a disease caused by rare vascular anomalies formed by an abnormal connection between arteries and veins that ...
HOT CLICKS: 5-Year-Old Boy with Rare Disease Scores Touchdown
GOSH to improve rare disease diagnosis with adoption of Congenica's Sapientia ...
It was only when Ian's DNA was sequenced that he finally received a definitive diagnosis of Bardet-Biedl syndrome, a rare genetic disease. Now that Ian and his family have a diagnosis, they can plan for the future, join relevant patient support groups ...
NZ treatment for rare disease sufferer
Malloch, 46, suffers from rare disease tarlov cysts, which she developed after a fall 10 years ago. In October she told North Shore Times she was hoping to go overseas for surgery because she wasn't able to get it in New Zealand. Then after a last ...
Rare disease companies must compete for clinical trial participants
As companies turn to rare disease as primary targets for drug development, they're starting to hit a snag: It's hard to find a sufficient patient population to test their drugs and, interestingly, must vie against one another to get access to these ...
Family of boy with rare disease asking for help
MOUNTVILLE, Pa. (WHTM) – A Lancaster County family is asking for help, after their two-year-old son was diagnosed with spinal muscular atrophy, a rare life-threatening disease that attacks the muscles. One in 6,000 children are born with it. Kayden ...