Thariana Pichardo

BELONG collects DNA and clinical data from 1,250 African ancestry OCD cases to improve genetic research representation and identify OCD risk genes.

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

The paper compares clinical phenotypes of CHAMP1 mutations and deletions, finding mutations cause more severe symptoms through dominant negative or gain of function mechanisms, while deletions act via haploinsufficiency.