Areas of Interest
Genetics of Birth Defects: neuroendocrine, auditory, and skeletal development. We use two main approaches in our birth defects research - sequencing patient DNA to identify novel disease genes and use of cell culture and animal models, especially the mouse, to understand the mechanism and pathophysiology of disease. Genetically engineered mice that model human disease are also valuable for testing therapeutic interventions. We are particularly interested in the genetic control of differentiation and cell proliferation that pertains to stem cells, progenitors and specialized cells. We study transcriptional regulation, cell signaling, and the interaction of these.
Honors & Awards
- 2021 Sidney H. Ingbar Distinguished Service Award, Endocrine Society
- 2017 Frontiers in Reproduction: Beacon Award
- 2016 Sarah Goddard Power Award from University of Michigan for contributing to the betterment of women
- 2016 Women in Endocrinology Mentoring Award from The Endocrine Society
- 2012 American Association for the Advancement of Science Fellow
- 2010 Rackham Distinguished Graduate Mentoring Award, University of Michigan
- 2007 Roy O. Greep Award for Research Excellence, Endocrine Society
- 2005 Distinguished Faculty Lectureship Award in Biomedical Research, University of Michigan
- 2002 NIH Merit Award
- 2000 John Boezi Memorial Alumnus Award in Biochemistry, Michigan State University
- 1992 National Alliance for Research on Schizophrenia and Depression, Young Investigator Award
- 1996 Faculty Recognition Award, University of Michigan
- 1995 Career Development Award, University of Michigan
- 1989 March of Dimes Basil O'Connor Starter Scholar Award
Credentials
- 1986-1988 Princeton University, Postdoctoral Fellow
- 1984-1986 Institute for Cancer Research, Philadelphia, Postdoctoral Fellow
- 1983 Michigan State University, Ph.D.Biochemistry
- 1976 University of Delaware, B.S.Chemistry
Published Articles or Reviews
Brue T, Camper SA. Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform. Eur J Endocrinol. 2021 Nov 26;185(6):C19-C25. doi: 10.1530/EJE-21-0949. PMID: 34597272.
Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ, Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR, Funari MFA, Nishi MY, Arnhold IJP, Jorge AAL, Mendonca BB, Camper SA, Carvalho LR. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum. Genes (Basel). 2021 Jul 25;12(8):1128. doi: 10.3390/genes12081128. PMID: 34440302; PMCID: PMC8394260.
Cheung LYM, George AS, McGee SR, Daly AZ, Brinkmeier ML, Ellsworth BS, Camper SA. Single-Cell RNA Sequencing Reveals Novel Markers of Male Pituitary Stem Cells and Hormone-Producing Cell Types. Endocrinology. 159(12):3910-3924, 2018. PMC6240904. https://www.ncbi.nlm.nih.gov/pubmed/30335147
Pérez Millán MI, Vishnopolska SA, Daly AZ, Bustamante JP, Seilicovich A, Bergadá I, Braslavsky D, Keselman AC, Lemons RM, Mortensen AH, Marti MA, Camper SA, Kitzman JO. Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism. Mol Genet Genomic Med. 2018 May 8. [Epub ahead of print] PMC6081231. https://www.ncbi.nlm.nih.gov/pubmed/29739035
Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, Cheung LY, Daly AZ,Ajmal A, Pérez Millán MI, Ozel AB, Kitzman JO, Mills RE, Li JZ, Camper SA. Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocr Rev. 37(6):636-675, 2016. PMC5155665. https://www.ncbi.nlm.nih.gov/pubmed/27828722
Pérez Millán MI, Brinkmeier ML, Mortensen AH, Camper SA. PROP1 triggers epithelial-mesenchymal transition-like process in pituitary stem cells. Elife. 2016 Jun 28;5. pii: e14470. PMC4940164. https://www.ncbi.nlm.nih.gov/pubmed/27351100