Samantha A. Brugmann, PhD

Associate Director, Division of Developmental Biology
Director, Molecular and Developmental Biology Graduate Program
Member, Division of Plastic Surgery
Professor, UC Department of Pediatrics

About

Biography

I am a developmental biologist studying craniofacial development and disease. The long-term goal of my research is to help children with craniofacial anomalies by generating tissue amenable for surgical repair. To achieve this goal, my lab specifically focuses on the role of a cellular organelle (the primary cilium) during craniofacial development and the craniofacial anomalies that arise when the cilium do not function properly (ciliopathies).

Projects in my lab utilize avian, murine and human-induced pluripotent stem cells to gain a better understanding of the molecular mechanisms associated with craniofacial anomalies.

My lab has uncovered the genetic cause of an avian mutant line called talpid2. Our work determined that the talpid2 was caused by a mutation in the protein coding gene C2 Domain Containing 3 Centriole Elongation Regulator (C2cd3) and, as such, could serve as a bona fide animal model for the human ciliopathic disorder orofacial-digital-syndrome (OFD). This discovery has allowed for novel experimentation of molecular mechanisms and treatment options for children with OFD.

In addition to using existing animal models to understand human craniofacial disorders, we are also sequencing patients and generating cell-based models to uncover novel genetic causes for craniofacial ciliopathies.

For my work, I was recognized with the 2013 Presidential Early Career Award for Science and Engineering. This award is the highest honor given by the United States government to outstanding scientists and engineers who are beginning their independent research careers and show exceptional promise for leadership in science and technology. In 2017, I received a Sustaining Outstanding Achievement in Research (SOAR) grant award from the National Institutes of Health. This grant allows mid-career investigators with outstanding productivity to have stable funding as they pursue potentially transformative research programs.

Services and Specialties

Interests

Craniofacial development

Research Areas

Publications

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies. Bartusel, M; Kim, SX; Rehimi, R; Darnell, AM; Nikolić, M; Heggemann, J; Kolovos, P; van Ijcken, WF J; Varineau, J; Crispatzu, G; Laugsch, M; Ludwig, KU; Rada-Iglesias, A; Calo, E. The American Journal of Human Genetics. 2025; 112:1097-1116.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development. Wilderman, A; D’haene, E; Baetens, M; Yankee, TN; Winchester, EW; Glidden, N; Roets, E; Van Dorpe, J; Janssens, S; Miller, DE; Weaver, KN; Brugmann, SA; Cox, TC; Cotney, J. Nature Communications. 2024; 15:136.

ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification. Barnada, SM; Giner de Gracia, A; Morenilla-Palao, C; López-Cascales, MT; Scopa, C; Waltrich, FJ; Mikkers, HM M; Cicardi, ME; Karlin, J; Trotti, D; Santen, GW E; McMahon, SB; Herrera, E; Trizzino, M. The American Journal of Human Genetics. 2024; 111:2232-2252.

The society for craniofacial genetics and developmental biology 46th annual meeting. Brugmann, SA; Clouthier, DE; Fantauzzo, KA; Harris, MP; Jeong, J; Saint-Jeannet, JP; Stottmann, RW; Merrill, AE. American Journal of Medical Genetics, Part A. 2024; 194:e63615.

The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning. Brooks, EC; Han, SJ Y; Bonatto Paese, CL; Lewis, AA; Aarnio-Peterson, M; Brugmann, SA. Differentiation; Research in Biological Diversity. 2024; 138:100782.

Identification of a heterogeneous and dynamic ciliome during embryonic development and cell differentiation. Elliott, KH; Balchand, SK; Paese, CL B; Chang, CF; Yang, Y; Brown, KM; Rasicci, DT; He, H; Thorner, K; Chaturvedi, P; Murray, SA; Chen, J; Porollo, A; Peterson, KA; Brugmann, SA. Development (Cambridge). 2023; 150:dev201237.

Pharmacological intervention of the FGF-PTH axis as a potential therapeutic for craniofacial ciliopathies. Paese, CL B; Chang, CF; Kristeková, D; Brugmann, SA. DMM Disease Models and Mechanisms. 2022; 15:dmm049611.

The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Brugmann, SA; Merrill, AE; Saint-Jeannet, JP; Stottmann, RW; Clouthier, DE. American Journal of Medical Genetics, Part A. 2022; 188:2258-2266.

Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders. Pagliaroli, L; Porazzi, P; Curtis, AT; Scopa, C; Mikkers, HM M; Freund, C; Daxinger, L; Deliard, S; Welsh, SA; Offley, S; Ott, CA; Calabretta, B; Brugmann, SA; Santen, GW E; Trizzino, M. Nature Communications. 2021; 12:6469.

Atavisms in the avian hindlimb and early developmental polarity of the limb. Bonatto Paese, CL; Hawkins, MB; Brugmann, SA; Harris, MP. Developmental Dynamics. 2021; 250:1358-1367.