autoinflammatory

Unlocking the Genetic Mysteries of Rare Autoinflammatory Diseases

IRP Researcher Finds Explanations and Hope

child getting her cheek swabbed for DNA analysis

Rare Disease Day, celebrated on or near February 29 — the rarest day on the calendar — calls attention to the 300 million people in the world who have some sort of rare disease. For children born with one of those diseases, speedy diagnosis and treatment may be necessary to ward off long-term complications, but that’s much easier said than done. This is especially true for pediatric autoinflammatory diseases, in which the immune system attacks the child’s own body. IRP senior investigator Raphaela T. Goldbach-Mansky, M.D., M.H.S., has made it her mission to discover and define these diseases and the genes that cause them, and then find a way to provide treatment. 

Cellular Therapy Could Soothe Sarcoidosis

Cells From Bone Marrow Calm Damaging Immune Response

cells

In patients with the inflammatory disease sarcoidosis, the body’s own immune cells rampage around the body like The Incredible Hulk set loose in a city, attacking both harmful pathogens and our own tissues. However, just like the Black Widow can calm The Hulk down and return him to human form in the Avengers films, cells isolated from our bone marrow may be able to change certain immune cells from a damaging state to a benign one, according to new IRP research.

Isaac Fights to Inspire Others

Reblogged from The Children's Inn at NIH.

Isaac was born to fight. Arriving more than five weeks early by emergency C-section, it wasn’t just his way of coming into the world that made him different from his three brothers. While he initially looked healthy, his parents soon realized Isaac’s health was something he and the entire family would need to be fighting for every single day.