So what is an orphan drug anyway?
An orphan drug is a medication used to treat life-threatening rare diseases for which no treatment, or no satisfactory one, has so far been available. Blau syndrome fits the criteria.
Current issues
What we learned reading the research.
When Lexi was diagnosed, her parents became students of every Blau study they could find. These notes share what they read and the questions it raised. They are the Foundation's own reading of published research, not medical advice.
Blau by genotype
All Blau mutations occur in the NOD2 gene, but research suggests different variants may have different outcomes for patients. That raises questions only a patient database can answer.
Creating a Blau database
One of our goals is a database of Blau patients that patients and doctors can both access and update. If the estimates are right, there should be over 4,000 patients out there. Where are they?
Uveitis and Blau
A study of 50 Blau syndrome patients at 25 medical centers found that uveitis in Blau usually affects both eyes and all layers of the uvea, and that current treatment often fails to control it.
Thalidomide, growth and Blau
Blau patients struggle with height and weight, and the window for growth in childhood does not reopen. A 2009 case report on thalidomide caught our attention, so we contacted its author.
CRISPR and Blau syndrome
CRISPR/Cas9 edits genomes like a pair of scissors. Because the mutation behind Blau syndrome is so easy to identify, Blau is an excellent candidate for this research.
Every dollar, every hour, every voice matters.
Rare disease research only moves when families and supporters push it. Your gift funds research directly, and your story in the registry gives scientists data they cannot get anywhere else.