Lipinski Lab

Research

Affecting millions of newborns each year, birth defects profoundly impact individuals, families, and communities.  The focus of our research group is to better understand human birth defects, dissect their complex causes, and apply this knowledge to the development of prevention strategies. 

We are resolving the gene-environment puzzle to develop birth defect prevention strategies

Gene-environment interactions: aligning birth defects research with complex etiologyDevelopment.

Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.  Disease Models and Mechanisms.

Developmental toxicity assessment of piperonyl butoxide exposure targeting Sonic hedgehog signaling and forebrain and face morphogenesis in the mouse: an in vitro and in vivoEnvironmental Health Perspectives.

Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.  Birth Defects Research

Prenatal Exposure to Pesticides and Risk for Holoprosencephaly: A Case-Control Study.  Environmental Health.

We are developing new models and identifying novel mechanisms of human birth defects 

A microphysiological approach to evaluate effectors of intercellular Hedgehog signaling in development.  Frontiers in Cell and Developmental Biology.

Sonic Hedgehog Signaling in Cranial Neural Crest Cells Regulates Microvascular Morphogenesis in Facial Development. Frontiers in Cell and Developmental Biology.

Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate. PLOS ONE.

Common basis for orofacial clefting and cortical interneuronopathy.  Translational Psychiatry.

 

We are identifying human disease genes and defining their function in development

Sonic Hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesisDevelopment.

Cohesin complex-associated holoprosencephalyBrain.

Genome-wide enrichment of de novo coding mutations in orofacial cleft triosAmerican Journal of Human Genetics.

Loss of Function Variants in PPP1R12A Cause Holoprosencephaly Spectrum and Urogenital MalformationsAmerican Journal of Human Genetics.

We are elucidating cellular signaling pathways that drive embryonic development

Identification of Sonic Hedgehog regulated genes and biological processes in the cranial neural crest mesenchyme by comparative transcriptomicsBMC Genomics.

Coordinated D-Cyclin/Foxd1 activation drives mitogenic activity of Sonic Hedgehog signaling pathway.  Cellular Signalling.

Serotonin regulates calcium homeostasis in lactation by epigenetic activation of Hedgehog signaling. Mol. Endocrinol.