The Luquetti Lab studies the genetics and epidemiology of craniofacial malformations, with the goal of identifying what causes those malformations’ and developing research methods that can be used to study a wide variety of birth defects.
Investigating the genetics of craniofacial microsomia
Our current research includes studies that investigate the causes of craniofacial microsomia (CFM). CFM is a birth defect that occurs when part of the face is undersized, usually the ears and jaw. It can also affect the eyes, cheeks and bones of the neck. CFM is the second most common birth defect affecting the face.
Our goals are to identify genetic variations that contribute to CFM, and to pinpoint how these variations affect a child’s physical characteristics, or phenotype.
Studying microtia’s causes
In 2012, Dr. Daniela Luquetti received a K99/R00 award (NIDCD-R00 DC011282) to study the genetic and non-genetic risk factors for microtia.
Microtia is a birth defect that results in the ear being underdeveloped or, in severe cases, missing entirely. This condition causes hearing loss in more than 90% of cases and often requires reconstructive surgery. Microtia is believed to be CFM’s mildest form.
We are studying microtia in South America’s Andean region, where the condition appears to be far more prevalent than in other regions of the world. Working closely with collaborators in the region, we use extensive phenotypic characterization, exome sequencing and other advanced methods to search for genetic mutations that might contribute to microtia. We also investigate whether environmental factors, such as living at high altitude, play a role.
Our long-term goals are to advance our understanding of microtia and develop research methods that help unravel other birth defects that result from a complicated mix of genetic and environmental factors.
Collaborating to understand craniofacial malformations
The Luquetti Lab’s work extends beyond microtia. As a contributor to the Craniofacial Outcomes Research and Epidemiology Group (CORE), the lab works closely with other researchers in Seattle Children’s Craniofacial Center, helping design and conduct studies aimed at improving our understanding of craniofacial microsomia and other malformations.