Skeletal dysplasias/pseudoachondroplasia

During the last 30 years, since we mapped and discovered that mutations in COMP cause PSACH, our research has focused on understanding the natural history and underlying molecular pathology of PSACH, a dwarfing condition that is associated with joint laxity, joint abnormalities, pain, and early onset osteoarthritis.  Having delineated the pathologic effects of MT-COMP on growth plate chondrocytes and applied different therapeutics that reduced the pathology, we now have turned our research focus to articular cartilage, ligaments and tendons, all of which likely contribute to the joint instability and erosion in this dwarfing condition.  We are also using different treatment regimens to reduce the joint abnormalities and early onset osteoarthritis that are characteristic of this dwarfing condition.


Nonsyndromic cleft lip and palate

My research for the last 3 decades has focused on delineating and identifying the clinical and genetic aspects nonsyndromic cleft lip and palate (NSCLP), a common and deforming orofacial birth defect affecting more than 4000 newborns each year in the US.  NSCLP inflicts significant psychological, medical, dental and financial burdens that reduce quality of life.  Therefore, identifying the genetic factors that contribute to NSCLP is a number 1 priority.  To accomplish this goal, we combine our expertise in zebrafish and human genetics to identify genetic pathways underlying NSCLP.  We are using family-based genome-wide and association approaches and have identified numerous genes and pathways that have been functionally validated.  Based on our previous work, we recognize that perturbations across multiple genes within and between pathways underlies NSCLP and these changes may be individual/family specific.  Therefore, we focus on characterization of genetic pathways using our large collection of well characterized nonHispanic white and Hispanic multiplex and simplex families to test the functional outcomes from zebrafish.