Chien-Wei Eric Liao, M.D., Ph.D

Professor of Surgery

215-590-3096

Research Expertise

Craniofacial development and genetics

Functional genomics

Liao lab research program

Genome sequencing technology continues to advance with ever increasing speed and efficiency and decreased cost. It is now possible to obtain genomic sequencing data in clinical time frame even during the prenatal period. However, the exponential and accelerated growth of genomic data has only exacerbated and underscores the difficulty in translating this data to clinically actionable information. For example, whether it is somatic sequencing data from tumors or germline sequencing data from congenital conditions, resolving the sequence information down to a causative gene has for the most part defied computational tools; often requiring experimental evidence to impute pathogenicity. Further, newer systems and tools need to be developed to handle the integration and analysis of genomic data. To realize the vision of personalized medicine for pediatric and congenital conditions, fundamental studies on gene function are essential.

Our research program aims to bridge genomic data to clinical actionable diagnosis and treatment. We focus on craniofacial conditions such as orofacial clefts and the biology that underpin craniofacial development. We are focused on transcriptional and signaling pathways during craniofacial development and focus discovery efforts to identify molecular drivers of development and disease. This work has led us to focus on cranial neural crest cells and embryonic epithelial cells, investigating the genetic requirement of ALX1, IRF6, ESRP1, CTNND1 and many other genes implicated in craniofacial malformations. We employ developmental biology approaches in human iPSC, mouse and zebrafish models for these studies.

  1. Pini J, Kueper J, Hu YD, Kawasaki K, Yeung P, Tsimbal C, Yoon B, Carmichael N, Maas RL, Cotney J, Grinblat Y, Liao EC. ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration. EMBO Mol Med. 2020 Sep 11;:e12013. PMID: 32914578.
  2. Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, et. al.,, Liao EC, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.  The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.  Nature Genetics. 2017 Jan;49(1):36-45.  PMID: 27841880; PMCID: PMC5307971.
  3. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, e. al, Liao EC, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics 2017 Feb; 49(2):238-248. Epub 2017 Jan 9. PMID: 28067909; PMCID: PMC5473428.
  4. Li EB, Truong D, Hallett, SA, Mukherjee K, Schutte, BC, and Liao EC. Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model. PLoS Genetics 2017 Sep 25;13(9):e1007009. PMID: 28945736; PMCID: PMC5628943
  5. Dougherty M, Kamel G, Grimaldi M, Gfrerer L, Shubinets V, Ethier R, Hickey G, Cornell RA, Liao EC. Distinct requirements for wnt9a and irf6 in extension and integration mechanisms during zebrafish palate morphogenesis. Development. 2013 Jan 1;140(1):76-81. PMID: 23154410.
  6. Kamel G, Hoyos T, Rochard L, Dougherty M, Kong Y, Tse W, Shubinets V, Grimaldi M, Liao EC. Requirement for frzb and fzd7a in cranial neural crest convergence and extension mechanisms during zebrafish palate and jaw morphogenesis. Dev Biol. 2013 Sep 15;381(2):423-33. PMID: 23806211.
  7. Rochard, LC, Monica SD, Ling, ITC, Kong Y, Roberson S, Harland R, Halpern M, and Liao EC.  Roles of Wnt pathway genes wls, wnt9a, wnt5b, frzb and gpc4 in regulating convergent-extension during palate morphogenesis.  Development. 2016 Jul 15;143(14):2541-7. PMC4958341
  8. Ling IT, Rochard L, Liao EC. Distinct requirements of wls, wnt9a, wnt5b and gpc4 in regulating chondrocyte maturation and timing of endochondral ossification. Dev Biol. 2017 Jan 15;421(2):219-232. (Cover article) PMC5266562.