The Molecular Genetics of Blood Disorders Research Program combines efforts of both basic and clinical faculty in the area of molecular genetics. It includes research projects using molecular genetics techniques to study blood disorders affecting the Puerto Rican population. Despite the importance of studying the genetic variants of hereditary diseases in ethnic groups such as the Hispanic populations, the level of research activity in this specific area in the Medical Sciences Campus has been low. Thus, this research program represents a joint effort of several clinical and basic science investigators to develop biomedical research in the area of genetics of blood disorders.

The Molecular Genetics of Blood Disorders Research Program addresses important research questions such as:

1. What other Factor VIII mutations, besides the commonly found Inversion Mutation, are present in the Puerto Rican Hemophilia A pediatric population?
   
2. What are the mutations causing von Willebrand Disease in the Puerto Rican population?
   
3. What is the prevalence of the Factor V Leiden G1691A (R506Q) in the general population, patients presenting with hypercoagulability, and patients with bleeding or red blood cell sickling disorders in Puerto Rico?
   
4. What is the molecular nature of hemoglobin variants present in the Puerto Rican population?
   
5. What are the genetic defects causing absence of dense bodies in Puerto Rican subjects with undefined bleeding diathesis with or without albinism?
   

The answers to these questions will provide a better understanding of the genetic variants influencing the blood disorders that disproportionately affect the Puerto Rican population.