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Cunningham Lab

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Researchers in the Cunningham lab use animals and human cells to study craniosynostosis and other malformations. The lab collaborates with researchers from Seattle Children’s Craniofacial Center, the University of Washington, Sage Bionetworks and other institutions to pursue discoveries that could lead to improved treatment for a variety of craniofacial conditions.

Learn more about specific projects involving the lab:

Craniosynostosis

Single-suture craniosynostosis gene expression and discovery 

Protein model depicting the extracellular domain of IGF1R found to have three causative mutations (red residues) in single-suture craniosynostosis (modeling by Dr. Jeremy Horst).

Protein model depicting the extracellular domain of IGF1R found to have three causative mutations (red residues) in single-suture craniosynostosis (modeling by Dr. Jeremy Horst).

The goal of this project is to identify mutations and altered genetic pathways that cause craniosynostosis. Using a combination of next-generation sequencing, gene expression studies, and cell biology our lab has begun identifying molecular risks for developing this common human malformation. Our work will not only enhance our ability to counsel patients and families but also holds great promise for identifying modifiable biologic pathways for the treatment and prevention of craniosynostosis.

Read a detailed abstract from the NIH's RePORT website.

Neurobehavioral correlates of craniosynostosis

While some studies indicate that single-suture craniosynostosis (SSC) significantly increases a child’s risk of developing learning, attention and behavior problems, there was no scientific consensus on SSC’s impact. Starting with the study of infants, this study is now comparing the neuropsychological development of these now school-aged children with and without SSC. The goals are to better illuminate how single-suture craniosynostosis affects children in order for their providers to deliver evidence-based care.

Read a detailed abstract from the NIH'S RePORT website.

3-D Facial Imaging and Analysis

3-D Analysis of Normal Facial Variation: Data Repository and Genetics – A Project of the FaceBase Consortium

By collecting 3-D images and gene samples from 3,500 patients who don’t have a craniofacial abnormality, this project is building a database that will help identify how genes influence the midfacial form. The long-term goals include providing a control group that can be used by researchers around the world and helping understand genetic risk factors for orofacial clefting and other craniofacial malformations.

Read a detailed abstract from the NIH's RePORT website.

Shape-Based Retrieval of 3-D Craniofacial Data – A Project of the FaceBase Consortium

This project is developing software tools that help quantify the information in 3-D facial images. This helps computers find and retrieve particular facial shapes and malformations found in those images. The initial goal is to use these tools to study midface hypoplasia and cleft lip and palate. The system will be able to be used in the future to study all craniofacial malformations.

These tools will help researchers cull information from large databases of 3-D images, allowing them to compare an individual’s facial characteristics with other individuals, a large population, or between two populations.

Read a detailed abstract from the NIH's RePORT website.

Disease Gene Discovery

Genetic and developmental pathways causing midface hypoplasia

3D microCT scan of the mouse model of human Apert syndrome. Bottom panel depicts evidence of the earliest stages of premature suture fusion.

3D microCT scan of the mouse model of human Apert syndrome. Bottom panel depicts evidence of the earliest stages of premature suture fusion.

This project uses state-of-the-art gene sequencing technologies to identify genes that cause midfacial hypoplasia, a malformation that often accompanies craniosynostosis. The project uses mouse models to investigate the cellular and developmental factors that regulate midfacial development. The long-term goal is to identify the molecular and environmental causes of midfacial hypoplasia in order to instruct our counseling and treatment of children and families affected by this common condition.

Read a detailed abstract from the NIH's RePORT website.

Rare craniofacial disorders gene discovery

Clinical 3D CT scan of a child with auriculocondylar syndrome.

Clinical 3D CT scan of a child with auriculocondylar syndrome.

The Cunningham lab has a longstanding interest in identifying the molecular genetic causes of craniofacial malformations. Using traditional methods of candidate gene analysis, gene expression studies and state-of-the-art, next generation high throughput sequencing, we are discovering the causes of human malformation. The implications for our patients and their families is immediate – improved genetic counseling and family planning. These discoveries will continue fueling our developmental biology research in order to identify biologic variations amenable to therapeutic manipulation. As with all our studies, our focus is on the long-term improvement of life quality whether through diagnostics, therapeutics or disease prevention.

Ontology

The Ontology of Craniofacial Development and Malformation – OCDM (a Competitive Supplement of Shape-Based Retrieval of 3-D Craniofacial Data) – A Project of the FaceBase Consortium

In order to understand the genetic and environmental etiologies of craniofacial conditions we must have the tools necessary to measure anatomic differences. The first step in defining anatomic variation is the creation of a precise definition of anatomic structure. The OCDM project, based on the Foundational Model of Anatomy, will define each of the anatomic structures and relationships in the human craniofacial complex. These data will be used to link human craniofacial anatomy to mouse anatomy, developmental processes and human malformation. This publicly available tool will make it easier for researchers to compare, analyze and interpret information about these malformations for clinical and basic research.

Read a detailed abstract from the NIH's RePORT website.

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