Congratulations to Aris Mourelatos, a 5th year MD-PhD student who has been awarded an NIH F30 fellowship grant. This grant will support Aris's research with his mentor Jean-Laurent Casanova at The Rockefeller University. His project is titled "A Genetic Dissection of the Incomplete Penetrance of RPSA Variants for Isolated Congenital Asplenia."
According to Aris, "Inherited RPSA haploinsufficiency (HI) is the only known genetic etiology of Isolated Congenital Asplenia (ICA). As is frequently observed in genetic diseases, the penetrance of RPSA HI for ICA is incomplete. This project aims to investigate a potential genetic etiology of the observed incomplete penetrance via statistical methodologies, thereby advancing our understanding of the genetic architecture of penetrance."