Rare Disease in the News
Photos: Mission boy Nolin battles rare disease
Darlene Schopman and her husband Frank Jutten have faced many challenges raising their son, Nolin, 3, who suffers from a rare disease. Photograph by: Jenelle Schneider, PNG. Nolin's battle. E-mail this Gallery · Print this Gallery; Share this Gallery ...
Family using crowdfunding to help find cure for daughter's rare disease
FOX 5 DC
The degenerative brain and spinal cord disease is so rare that Ellie is one of less than 100 cases ever identified. The genetic condition has no cure. "We have to think about the future not worrying about it,” her mother Beth McGinn said. “We just have ...
Mission family tackle son Nolin's rare disease together
Schopman and Jutten's three-year-old son, Nolin, suffers from NANS deficiency, a devastating disease that has left him stricken with seizures and unable to walk, sit, talk or even hold up his head. He's dependent upon his parents and other caregivers ...
Invitae Expands Its Offering for Rare Disease and Pediatric Conditions with ...
SAN FRANCISCO, Oct 07, 2015 (BUSINESS WIRE) -- nvitae Corporation NVTA, +9.71% , a genetic information company, today announced that it has started to expand its offering of genetic tests for rare diseases and pediatric conditions, providing broader ...
Invitae Expands Test Offerings, Inks Agreement With BCBS Association
Invitae Expands Test Menu to Include Hundreds of New Genes, Dozens of New Test ...
Colin Farrell meets heroic kids suffering rare disease
Hollywood actor Colin Farrell happily posed for selfies with children who suffer from Mitochondrial Disease - a debilitating condition which causes physical, developmental, and cognitive disabilities.
Dog gets treatment for rare disease at UF
Canine pythiosis is a rare and deadly tropical disease caused by the fungus-like pathogen Pythium insidiosum. The form of the disease that affects the skin causes tumor-like lesions that develop mostly on the tail, legs, thorax and abdomen. Although ...
Rare Disease Strategy urgently needed to help 3 million Canadians
NorthumberlandView.ca (press release) (registration) (blog)
EDMONTON, Oct. 7, 2015 /CNW/ - The nearly 3 million Canadians with rare diseases who face seemingly insurmountable barriers are calling for the same quality of healthcare as those with cancer, heart disease and diabetes. Today, at a panel discussion ...
Merck relinquishes Rare Disease license to instead focus on Immuno-oncology
Phenylketonuria is a rare genetically conferred metabolic disease, where the amino acid phenylanaline (PHE) is not broken down properly. This is due to a dysfunctional phenylalanine hydroxylase (PAH) enzyme resulting from a deficiency of the enzymes ...
Funding For Rare Disease Treatment Denied, But Health Ministry Will Reconsider
The executive director of an advocacy group for rare diseases like Morquio Syndrome is puzzled as to why access for treatment has been denied for 3 Saskatoon siblings. Andrew McFadyen, from the Isaac Foundation, along with the children and their father ...
Health Ministry denies funding for Sask. siblings with rare genetic disease
Genomic advance lifts hopes of patients with rare diseases
So it is testament to how much has changed that today, rare diseases — defined in Europe as a condition affecting fewer than 1 in 2,000 people — are among the hottest areas of drug development. A third of all medicines approved by the US Food and ...