Casey Thornton, Ph.D.
Assistant Professor
Positions
- Assistant Professor
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Molecular and Human Genetics
ÌÇÐÄÊÓƵ of Medicine
- Assistant Clinical Laboratory Director
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Baylor Genetics
Cytogenetics & Molecular Genetics
Education
- Fellowship at ÌÇÐÄÊÓƵ of Medicine
- 06/2024 - Houston
- ABMGG/ACGME Laboratory Genetics and Genomics
- PhD from Oregon Health and Science University
- 06/2022 - Portland
- Molecular and Medical Genetics
- BS from Rensselaer Polytechnic Institute
- 06/2015 - Troy
- Bioinformatics and Molecular Biology
Professional Statement
As a clinical laboratory geneticist my ultimate goal is to utilize modern sequencing technologies to resolve the genomic and epigenomic signature of disease states in order to advance precision medicine. My research has previously focused on single-cell epigenetic assay development and bioinformatic analysis of these data sets, to characterizing cell types and cell states in health and disease (cerebral ischemia) using the epigenomic features of chromatin accessibility, transcriptomics, and methylation in human and mouse tissues (Thornton, 2021).
As a faculty member, my work now focuses on clinical whole genome sequencing (WGS) analysis and utilization of RNA sequencing (RNAseq) to resolve complex variants. Clinically, I focus on whole genome analysis for the diagnosis of rare disease at Baylor Genetics.
In my research with the Rare and Atypical Diabetes Network (RADIANT), we aim to define the genetics factors that contribute to rare and atypical diabetes. We pair deep patient phenotyping with genotyping and epigenotyping, to elucidate causative variants in rare and atypical diabetes disorders. We utilize WGS, RNAseq, mitochondrial genome sequencing, and co-segregation analysis to identify diabetes-associated disease genes and to establish genotype-phenotype correlations.
As a faculty member, my work now focuses on clinical whole genome sequencing (WGS) analysis and utilization of RNA sequencing (RNAseq) to resolve complex variants. Clinically, I focus on whole genome analysis for the diagnosis of rare disease at Baylor Genetics.
In my research with the Rare and Atypical Diabetes Network (RADIANT), we aim to define the genetics factors that contribute to rare and atypical diabetes. We pair deep patient phenotyping with genotyping and epigenotyping, to elucidate causative variants in rare and atypical diabetes disorders. We utilize WGS, RNAseq, mitochondrial genome sequencing, and co-segregation analysis to identify diabetes-associated disease genes and to establish genotype-phenotype correlations.
Websites
Selected Publications
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O’Connell B. L., Nichols R. V., Pokholok D., Thomas J., Acharya S., Nishida A., Thornton C. A., Co M., Fields A. J., Steemers F.J., Adey A. " " Genome Res. 2023 Feb ; 33 (2) : 208-217..
Pubmed PMID: . -
Thornton C. A., Mulqueen R. M., Nishida A., Torkenczy K. A., Nishida A., Lowenstein E. G., Fields A. J., Steemers F. J., Zhang W., McConnell H. L., Woltjer R. L., Mishra A., Wright K. M., Adey A. C.. " " Nat Commun. 2021 Feb 24; 12 (1) : 1274.
Pubmed PMID: . -
Mulqueen R. M., Pokholok D., O’Connell B. L., Thornton C. A., Zhang F., O’Roak B. J., Link J., Yardmici G. G., Sears R. C., Steemers F. J., Adey A. C.. " " Nat Biotechnol. 2021 Dec ; 39 (12) : 1574-1580.
Pubmed PMID: . -
Mighell T. L., Nishida A., O’Connell B. L., Miller C. V, Grindstaff S., Thornton C. A., Adey A. C., Doherty D., O’Roak B. J.. " " CRISPR J. 2022 Aug ; 5 (4) : 548-557.
Pubmed PMID: .
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