The main interesting development in our field includes:
The validation of the presence of a genetic founder mutation RSPH4A [c.921 + 3_6delAAGT] in native Puerto Ricans with a rare congenital disorder called Primary Ciliary Dyskinesia (PCD).
We described the European ancestry of the RSPH4A [c.921 + 3_6delAAGT] founder mutation creating an ancestral haplotype analysis.
The implementation and validation of a novel research tool to measure nasal Nitric Oxide (nNO) in patients with PCD, for the first time in Puerto Rico, with the goal to become the first PCD center in Puerto Rico and the Caribbean.