Thomas Gonatopoulos-Pournatzis, Ph.D.

Thomas Gonatopoulos-Pournatzis, Ph.D.

  • Center for Cancer Research
  • National Cancer Institute
RNA Biology Laboratory


Thomas Gonatopoulos-Pournatzis studies the regulatory pathways and functional roles of alternative splicing and other pre-mRNA processing events in mammalian cells. Towards this, he has developed several CRISPR-based screening platforms which are coupled to high-throughput phenotyping and enable systematic exploration of the regulatory and functional complexity of pre-mRNA processing. Dr. Gonatopoulos-Pournatzis’ team combines these functional genomics tools with molecular and biochemical approaches as well as animal models to identify alternative exons and other genetic segments that underlie phenotypes related to normal physiology and disease states. The long-term goal of his research is to contribute to the functional annotation of all exons in the human genome and to map the gene regulatory networks that underlie the complexity of the mammalian transcriptome.

Areas of Expertise

1) alternative splicing, 2) RNA biology, 3) functional genomics, 4) CRISPR-Cas, 5) genome engineering, 6) pre-mRNA processing, 7) gene regulation


Selected Key Publications

Application of CHyMErA Cas9-Cas12a combinatorial genome-editing platform for genetic interaction mapping and gene fragment deletion screening

Michael Aregger, Kun Xing & Thomas Gonatopoulos-Pournatzis
Nature Protocols. 2021.
Full-Text Article
[ Journal Article ]

Genetic interaction mapping and exon-resolution functional genomics with a hybrid Cas9-Cas12a platform

Gonatopoulos-Pournatzis T, Aregger M, Brown KR, Farhangmehr S, Braunschweig U, Ward HN, Ha KCH, Weiss A, Billmann M, Durbic T, Myers CL, Blencowe BJ, Moffat J.
Nature Biotechnology. 38(5): 638-648, 2020.
Full-Text Article
[ Journal Article ]

Autism-Misregulated eIF4G Microexons Control Synaptic Translation and Higher Order Cognitive Functions

Gonatopoulos-Pournatzis T, Niibori R, Salter EW, Weatheritt RJ, Tsang B, Farhangmehr S, Liang X, Braunschweig U, Roth J, Zhang S, Henderson T, Sharma E, Quesnel-Vallières M, Permanyer J, Maier S, Georgiou J, Irimia M, Sonenberg N, Forman-Kay JD, Gingras AC, Collingridge GL, Woodin MA, Cordes SP, Blencowe BJ.
Molecular Cell. 77(6): 1176-1192, 2020.
Full-Text Article
[ Journal Article ]

Microexons: at the nexus of nervous system development, behaviour and autism spectrum disorder

Gonatopoulos-Pournatzis T and Blencowe BJ.
Current Opinion in Genetics & Development. 65: 22-33, 2020.
Full-Text Article
[ Journal Article ]

Genome-wide CRISPR-Cas9 Interrogation of Splicing Networks Reveals a Mechanism for Recognition of Autism-Misregulated Neuronal Microexons

Gonatopoulos-Pournatzis T, Wu M, Braunschweig U, Roth J, Han H, Best AJ, Raj B, Aregger M, O'Hanlon D, Ellis JD, Calarco JA, Moffat J, Gingras AC, Blencowe BJ.
Molecular Cell. 72(3): 510-524, 2018.
Full-Text Article
[ Journal Article ]

Job Vacancies

Position Degree Required Contact Name Contact Email
Post-doctoral Fellow - Alternative splicing regulation, functional genomics, CRISPR-Cas Ph.D. or equivalent Thomas Gonatopoulos-Pournatzis