IU team helps make gene discovery in a rare disease

Why it is more important than ever to optimise and innovate rare disease research

Find out why optimising and innovating rare disease research is crucial in today's world. Learn about the significance of research and its impact on individuals with rare diseases.

IU team helps make gene discovery in a rare disease

INDIANAPOLIS — Friday is Rare Disease Day. It's dedicated to the thousands of people who have a rare disease and to the thousands of researchers and doctors doing the important work to learn more about them. The team at the Undiagnosed Rare Disease Clinic from IU's School of Medicine is contributing to that work, trying to find answers for families about their loved one's conditions. They recently made a big discovery. A patient came to them in …

For years Werner Zinkand did not know what was going on with him. The diagnosis came by chance – because his illness is so rare that even experts have often never heard of it.

Marking 'Rare Disease Day' as families worry about research pause

FARGO — While top researchers and scientists from around the nation are gathering in Washington for National Rare Disease Day on Friday, Feb. 28, Fargo's own Aldevron also is marking this important day. Aldevron's 890 employees are instrumental in developing and producing DNA and other agents scientists worldwide need in their labs for testing their breakthrough therapies. Inside the walls, and in the labs of Aldevron, experts are helping produc…

Hudson's Handlebar Heroes rasing funds for 'Rare Disease Day'

SPOKANE, Wash. – A local family is channeling their grief into a mission to support research for rare diseases. Friday marks "Rare Disease Day," and the Schmidt family is honoring their late son, Hudson, who was born with a rare…

Twenty-three years ago, Teresa Sala (59) married Francesc, her husband. They had three children: Geneva (who is now 23); Jaume (21); and Hug (18). Life, explains Teresa to La Vanguardia, has always treated them wonderfully. Until three years ago, when they saw that Jaume, who was 18 at the time, began having difficulty walking. “She started to fall. We even scolded him,” her mother said.