Maps

Non-Mendelian Birth Defects Research

Boyd Genetics Lab

Our Research Studies

We are happy to collaborate and provide genetic expertise to clinicians and researchers interested in multifactorial human disorders. Interested individuals and families are welcome to register through our study website in order to support and participate in our studies.

  • Craniosynostosis

    We are researchers from the International Craniosynostosis Consortium. Our research involves studying the causes of craniosynostosis and the ultimate goal is to identify genes and environmental factors causing this condition.

    Learn more about our research study, what to expect, and how to register. We are currently recruiting families with at least one child with craniosynostosis. There is no charge to participate in this study.

    Learn more about Craniosynostosis
  • Bladder Exstrophy

    The bladder exstrophy-epispadias complex (BEEC) represents a spectrum of urologic abnormalities in which part or all of the distal urinary tract fail to close and are exposed on the outer abdominal wall. The most common manifestation of BEEC, classic bladder exstrophy, occurs in approximately 1 out of 30,000 liveborn children. This severe sporadic birth defect is thought to have multifactorial etiology with evidence of genetic factors.

    Learn more about Bladder Exstrophy
  • Intracellular Trafficking

    We delineated Cranio-lenticulo-sutural dysplasia (CLSD; Boyadjiev-Jabs syndrome, OMIM 607812) as a new autosomal-recessive genetic syndrome in a consanguineous family where five males and one female have similar craniofacial features (large and late-closing anterior fontanels, hypertelorism), early onset cataracts, and mild generalized skeletal dysplasia.

    Learn more about Intracellular Trafficking