Stories from the battle to cure Hermansky-Pudlak Syndrome, and other observations about every day life
Thursday, November 25, 2010
Dr. Carmelo Rivera by his poster on HPS
This is our good friend Dr. Carmelo Rivera next to his poster about HPS at the American Society of Human Genetics. He found three people with HPS type 1 in Puerto Rico who do not have the HPS type I Puerto Rican mutation. This is interesting from the standpoint of testing for HPS in Puerto Rico, where we've assumed everyone would have either the same HPS 1 or HPS 3 mutations.