The Luquetti lab's current focus is on identifying the genetic and environmental causes of microtia. Our key goals are to conduct research that helps improve treatment for children with this condition, to make discoveries that shed light on the ear's overall development, and to develop research methods that can be applied to other birth defects that result from the interplay of many factors.

The lab's current studies include:

Phenotypic and Genomic Characterization of Microtia in the Andean Population

This study investigates the causes of microtia in South America's Andean region. This is a natural place to study the condition because it appears to be more prevalent there than elsewhere in the world, and because regional investigators have established the Latin American Collaborative Study of Congenital Malformations (ECLAMC), a study that collects information on thousands of patients with birth defects.

Working closely with collaborators in South America, Dr. Luquetti and her colleagues are using this database, as well as samples from individuals with microtia, to try and identify the condition's causes. The research team is using exome sequencing and other advanced tools to search for genetic mutations that contribute to the condition. They are also investigating whether environmental factors, such as dietary differences and the region's uniquely high altitude, play a role.

Further Exploration in Microtia Etiology: Candidate Gene Analysis in a South American Population

This study's goal is to identify genetic mutations in individuals who have microtia but no other birth defects in La Paz, Bolivia, where the condition's birth prevalence is three to four times higher than the worldwide prevalence. Using blood samples gathered by ECLAMC, the Luquetti lab is studying two candidate genes that play a role in normal and abnormal ear development, with the goal of painting a more complete picture of microtia's genetic underpinnings.

Microtia Classification: Refining the Phenotype

One challenge to understanding microtia is that there is no standardized system for identifying and classifying the condition's phenotype, or physical characteristics. To address this, a team led by Luquetti and Dr. Carrie Heike are using the American Journal of Medical Genetics (AJMG) ear terminology and classification to characterize and classify the severity of particular microtia cases. The study uses six different people to rate and characterize the severity of microtia in photographs of patients' ears.

The goal is to evaluate whether using these classifications can significantly improve collection and interpretation of microtia data. If this method is successful, it could provide a template for collecting data across across multiple study sites, improving our ability to understand and assess microtia cases.

Facial Asymmetry Collaborative for Interdisciplinary Analysis and Learning (FACIAL)

Luquetti is working with Dr. Carrie Heike and other Craniofacial Center researchers to establish a network that could overcome key barriers to studying craniofacial microsomia. Traditionally, medical centers have defined cases differently and followed different protocols on how to treat the disorder. The FACIAL team is developing standardized definitions and protocols that will guide a multicenter study. By assembling the first-ever large cohort of patients with craniofacial microsomia, the network could significantly improve our understanding of the condition's causes and treatment outcomes.

Learn more about FACIAL.