Society of Craniofacial Genetics and Developmental Biology Annual meeting
Dear Supporters of the Society of Craniofacial Genetics and Developmental Biology,
I am writing to provide information about our 36th annual meeting that will be held in Boston, MA on 
Tuesday October 22, 2013 in conjunction with the 63nd Annual Meeting of the American Society of Human 
Genetics. As in previous years, we will hold the SCGDB meeting prior to the larger ASHG convention. 
Drs. Matthew Harris and Patty Purcell graciously accepted our challenge of organizing the meeting this 
Transitioning to new FaceBase site - Public Beta

The FaceBase2 Hub is rolling out a new version of the FaceBase site that is scheduled to replace the current site on Wednesday, July 1st. Note that your current logins will not work on the new site and you will need to create a new account. We will be rolling out the new site and decommissioning the old one in stages:

Site maintenance scheduled for Tuesday, April 21st 11am-12pm

The Hub will be performing some site maintenance on and you may experience service interruptions on Tuesday, April 21st between 11am and Noon Pacific.

If you experience any issues with the site after that time period, please contact<>.

Site maintenance scheduled for Monday, March 30th 5am-7am

Due to maintenance that will be performed on infrastructure hosting, this site may experience service interruptions on Monday, March 30th between 5:00 am and 7:00 am Pacific. If you experience any issues with the site after that time period, please contact

Presentations from the 2015 Annual Meeting

We have edited the webcast from the public portion of the FaceBase Annual Meeting held on Thursday, January 8, 2015 in Marina del Rey, CA and made a video for each presentation in the playlist below:


The presentations are also available in PDF format:  

2015 FaceBase Annual Meeting in Marina del Rey, CA

The next annual meeting of the FaceBase Consortium will be held January 8-9 in Marina del Rey, California. We are pleased to announce that this year the first day of the meeting -- Thursday, January 8th -- will be open to the general craniofacial research community.
During this day-long meeting, each FaceBase project will introduce themselves and describe the research goals they will accomplish through FaceBase. The Hub Coordinating Center will also give an overview of the new FaceBase website and data browser that will be unveiled in 2015.

Facebase 2 Coordinating Center

The FaceBase consortium is a distributed network of researchers investigating craniofacial development and dysmorphology. The consortium includes research projects directly participating via funded ""spoke"" projects as well as members of the craniofacial research community at large. The collection, sharing and integration of heterogeneous data, including genetic, imaging, and anatomical, from human and animal models are essential for advancing craniofacial research.


We will develop and maintain a FaceBase 2 Data Management and Integration Hub infrastructure that will properly store, represent, and serve these data to the research community, and in addition provide access to tools for visualizing, integrating, annotating, linking and analyzing the data. Our three broad aims will provide not only the needed data migration and management, but also a set of user-centered tools for data visualization, comparison and annotation. These are:


Aim 1: Create an infrastructure driven by principles of ease of use and user centered design to manage data throughout its lifecycle. By taking a user centric approach and supporting the use of data throughout its lifecycle, the rate of discovery and utility of the hub can be maximized.


Aim 2: Provide tools within the Hub that accelerate craniofacial research by enabling data annotation, integration and analysis. To maximize the utility of the Hub for both spoke projects and outside users, our proposed infrastructure will allow any user to define a personal workspace and organize datasets, visualization tools, and analysis tools into specific user-driven workflows.


Aim 3: Promote use and collaboration across the FaceBase research network. The Hub will provide a wide range of collaboration tools and services to the consortium as well as organizing face-to-face meetings in order to enhance collaboration. We have assembled an experienced team of experts in bioinformatics, imaging, genetics, mouse and human studies, including FaceBase participants who bring firsthand knowledge of the needs within the craniofacial research community. The FaceBase team is intentionally diverse, to provide each spoke group at least one informed contact who will play an integral role in the development and implementation of the Hub, thereby ensuring that the data of each spoke project will have maximum impact on the community of researchers

Transcriptome Atlases of the Craniofacial Sutures

Craniofacial sutures are the fibrous joints between bones, allowing growth of the skull from prenatal to postnatal development until adult size is achieved. Proper suture development is crucial because abnormal suture fusion can require major surgical intervention to restore a satisfactory head and facial appearance and to prevent secondary damage to the brain, eyes, hearing, breathing, and mastication.


Craniosynostosis, the premature fusion of skull sutures, is a common birth defect, occurring in 1/2500 live births. It may present in syndromic and non-syndromic forms, and while mutations in some of the genes that account for syndromic forms are known, the underlying genetic etiology has not been identified for the majority of cases that are non- syndromic and involve a single suture. A more comprehensive understanding of suture biology and pathology can be aided by knowledge of gene expression profiles of sutures.


Craniofacial sutures vary widely in form, function, and susceptibility to fusion, suggesting that gene expression profiles vary considerably among sutures and during different developmental stages. A detailed characterization of gene expression would require the extraction of specific populations of cells from the different subregions of each suture, including the non-ossifying suture mesenchyme and the flanking osteogenic bone fronts, which are often from distinct bones and may therefore have distinct gene expression patterns.


Our overall goal is to generate comprehensive gene expression atlases of the major and functionally important craniofacial sutures of the mouse, which will accelerate both our understanding of human suture biology and the discovery of candidate genes whose mutation may cause craniosynostosis or other defects of craniofacial bone development. We will apply the state-of-the-art technology of laser capture microdissection to obtain tissue from different craniofacial sutures of both normal and craniosynostotic mouse models, combined with next generation sequencing of extracted RNA (RNA-Seq).


In Aim 1 we will breed a mouse model of Apert syndrome craniosynostosis with the Fgfr2 S252W mutation and use laser capture microdissection to obtain cells from 11 craniofacial sutures from WT and mutant mice. A second mouse model for Saethre-Chotzen syndrome with a Twist1 heterozygous null mutation will be bred to provide a comparison for two major sutures.


In Aim 2 we will extract RNA from the different sutural subregions of WT mice and perform RNA-Seq to generate a comprehensive set of gene expression atlases for normal sutures.


In Aim 3 we will similarly extract RNA from the suture subregions of Apert and Saethre-Chotzen syndrome mice for RNA-Seq and generate gene expression atlases complementary to the normal gene expression atlases.


These atlases will allow the rapid discovery of genes not yet known to be expressed in sutures, reveal the commonalities and differences between sutures that may suggest new hypotheses of suture formation and differentiation, with wider significance for evolutionary studies of the vertebrate skull, and provide insight into the pathology of suture fusion.          

Rapid Identification and Validation of Human Craniofacial Development Genes

The advent of new genomic sequencing technologies has made the task of gene discovery in human developmental disorders highly efficient. Simultaneously, advances in gene targeting in model organisms, specifically in zebrafish, have made semi-high throughput validation and analysis of human candidate genes feasible, including those responsible for craniofacial disorders. This application for a new spoke project in FaceBase 2 will take advantage of this convergence of new technologies to identify and functionally validate approximately two dozen genes involved in novel aspects of human craniofacial development.


Specifically, we will take advantage of already ascertained collections of craniofacial dysmorphoses from Boston Children's Hospital (BCH) and from King Faisal Specialist Hospital and Research Center (KFSHRC) in Saudi Arabia, where the high incidence of consanguinity makes autozygosity mapping and the identification of recessive causal loci highly feasible. We will extend the work of FaceBase beyond its current focus on disorders of palatal development by including a relatively wide range of craniofacial disorders that involve other components of the craniofacial complex. In addition, use of resources already compiled by FaceBase, including detailed gene expression data in mouse and zebrafish, enhancer analyses, and genome wide association studies, in combination with the present data and publicly available datasets, will further facilitate the functional annotation of these newly validated gene. To provide valuable deliverable resources to other FaceBase investigators and to the community at large, we will pursue three Specific Aims.


In Aim 1, we will ascertain and recruit patients with a wide range of craniofacial dysmorphoses of likely monogenic etiology. These patients will not only be identified at the BCH and KFSHRC referral centers, but also solicited from other clinical investigators and potentially even the FaceBase Biorepository.


In Aim 2, patients will be prioritized for further study based on the genetic likelihood of identifying a caual variant. We will then perform whole exome and in some cases whole genome sequence (WES/WGS) analysis, on the proband and potentially other family members, using aCGH to ensure genomic integrity and autozygosity mapping where applicable. An existing state-of-the-art computational pipeline will be used to derive a limited set of potentially causal DNA sequence variants and candidate genes.


Lastly, in Aim 3, in cases where causation cannot be readily established from known function and expression data, we will seek additional independent confirmatory cases and, in parallel, employ a rapid analysis strategy consisting of high-throughput gene expression analysis, morpholino knockdown, and mutagenesis and transgenesis to prepare GOF and LOF alleles. The results will be forwarded to the FaceBase 2 Coordinating Center, with the key deliverables to the community being a validated gene list of human craniofacial developmental regulatory genes and a set of corresponding zebrafish mutants that can be widely shared for further detailed study.          


How to access FaceBase Data?

FaceBase Data fits into one of two broad categories: open and restricted access. Open-access data is available on the FaceBase website to any interested user and does not require any formal registration. Open-access data is limited to summary-level human data (ex: averaged facial measures), and all non-human data.  In contrast, all individual-level human data (ex: demographic descriptors, phenotypic measures, 3D images) is restricted access data and requires the requestor to complete and submit the Data Access Request form found in the Official Documents.

How to contribute data to FaceBase?

Due to constraints as we're developing the new data model, we are not accepting outside contributions at this time.

How to request access to restricted human data?

  1. Complete the FaceBase Data Use Certification Agreement.
  2. Complete the Data Access Request (DAR) document, and an IRB approval from your institution. 
  3. Submit the Data Use Certification Agreement, DAR, and the IRB approval to the NIH Data Access Committee at
    You shall receive an answer from the Data Access Committee within 4-6 weeks.
  4. Once your request is processed, you are notified via email that your user account is approved for human dataset downloads. Note that this permission to download human data expires 180 days after the date of approval.

If you have... more