Protecting Children with Rare & Undiagnosed Disease From Discrimination: A Survey


A new survey has been circulating that has the potential to provide information which may help protect children’s rights and eliminate discrimination against children with rare or undiagnosed diseases. With recent news stories such as the case of Justina Pelletier of Boston Children’s Hospital, some […]

Study to be Conducted on Fathers of Children with Special Needs and Internet Use


Are you the father of one or more children? Are you 18 years old or older? Is your child under the age of 18? Does your child have special needs? (e.g. ADHD, visual impairment, hearing impairment, hyperactivity, Aspergers, etc.) Participate in a research study at […]

Rare Alexander Disease Yields Clues About Broader Brain Pathology

mutant gene

Alexander disease is a devastating brain disease that almost nobody has heard of— unless someone in the family is afflicted with it. Alexander disease strikes young or old, and in children, it destroys white matter in the front of the brain. Many patients, especially those with […]

Is Roche Going to Do Some Big Rare Disease Drug Deals?

Roche CEO Severin Schwan

So is Roche going to do some rare disease deals or not? Rumors of a possible buyout of Alexion and BioMarin– alternatively dissed and touted– helped make this one of the big questions for deal watchers. Roche CEO Severin Schwan’s answer can now be summarized in one word: […]

UAB Researcher Answered Questions for Families of Children with Rare Diseases


BIRMINGHAM, Alabama – Few people outside his laboratory at the University of Alabama at Birmingham knew or understood what researcher Jerry Thompson did. Over the years, thousands of families across the country relied on Thompson to tell them what was wrong with their children. If […]

Hutch’s “Project Violet” Taps Crowd, Seeks $20M for Drug Discovery


What if a horseshoe crab’s DNA contains the cure for cancer? Project Violet, a nonprofit comprised of a team of researchers at the Fred Hutchinson Cancer Research Center, are using small proteins from plants and animals, plus the inspiration of one patient, to create drugs that may […]

Mystery Disease Solved by Gene Experts


A global team of researchers has identified the gene behind an Australian toddler’s paediatric brain disorder in a discovery that is paving the way for the diagnosis and treatment of other children with genetic diseases. New disease Identified from The University of Queensland on Vimeo. […]