Wednesday, March 16, 2016

First scientific publication released today on the RPS23 mutation.

Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy

In this study the physical properties of Vincent's hair are analyzed in comparison to the rest of our family.

More papers will follow.

Tuesday, March 1, 2016

Rare Disease Day 29th of February

Very nice article written by Ricki Lewis Ph.D. A geneticist, blogger and publisher of genetics textbooks and the author of the book "The Forever Fix" Gene therapy and the boy who saved it.

Vincent's Story: Discovery of a New Autism Spectrum Disorder