A.J. (Atze) Bergsma, PhD

Current research interests: I am committed to developing a new type of treatment for Pompe disease, which is a rare lysosomal storage disorder. Furthermore, I am developing new RNA-based diagnostic methods to improve the detection of pathogenic variants. I also curate the Pompe disease GAA variant database, an open-source online database that describes all variants detected in the GAA gene, which is causative for Pompe disease. Professional development: I am involved in a new master entitled genomics in society which is currently being developed in the department of Clinical Genetics at the Erasmus MC. This master is meant to bridge the current gap between researchers in the field of genomics and the general public. I will be the course coordinator for the gene-editing course. I am also a core teacher within this master and will function as a core teacher for future students.

Pompe disease, pre-mRNA splicing, antisense oligonucleotides, skeletal muscle, induced pluripotent stem cells, Muscle-on-chip.

I learned basic chemistry at middle-level vocational education and moved forward to study molecular biology at higher vocational education, after which I obtained my master's degree in Molecular and Cellular life sciences at Utrecht University. From there, I went to Erasmus MC to pursue a PhD on an alternative antisense oligonucleotide-based therapy for Pompe disease, which I obtained in 2016.

Broad variation in phenotypes for common GAA genotypes in Pompe disease. Niño MY, In't Groen SLM, de Faria DOS, Hoogeveen-Westerveld M, van den Hout HJMP, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP. Hum Mutat. 2021 Nov;42(11):1461-1472. doi: 10.1002/humu.24272. Epub 2021 Sep 8. PMID: 34405923.

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening. De Faria DOS, 't Groen SLMI, Hoogeveen-Westerveld M, Nino MY, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP.  Hum Mutat. 2021 Feb;42(2):119-134. doi: 10.1002/humu.24148. Epub 2020 Dec 21. PMID: 33560568; PMCID: PMC7898817.

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI. Broeders M, Smits K, Goynuk B, Oussoren E, van den Hout HJMP, Bergsma AJ, van der Ploeg AT, Pijnappel WWMP.  Mol Ther Methods Clin Dev. 2020 Sep 16;19:174-185. doi: 10.1016/j.omtm.2020.09.004. PMID: 33209960; PMCID: PMC7648089.

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease. Bergsma AJ, In 't Groen SLM, Catalano F, Yamanaka M, Takahashi S, Okumiya T, van der Ploeg AT, Pijnappel WWMP.  Eur J Hum Genet. 2021 Mar;29(3):422-433. doi: 10.1038/s41431-020-00751-3. Epub 2020 Nov 9. PMID: 33168984; PMCID: PMC7940403.

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience. Niño MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, van der Beek NAME, van den Hout HJM, van der Ploeg AT, Verheijen FW, Pijnappel WWMP.  Eur J Hum Genet. 2021 Mar;29(3):434-446. doi: 10.1038/s41431-020-00752-2. Epub 2020 Nov 8. PMID: 33162552; PMCID: PMC7940434.

Opportunities and challenges for antisense oligonucleotide therapies. Kuijper EC, Bergsma AJ, Pijnappel WWMP, Aartsma-Rus A. J Inherit Metab Dis. 2021 Jan;44(1):72-87. doi: 10.1002/jimd.12251. Epub 2020 Jun 3. PMID: 32391605; PMCID: PMC7891411.

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis. In 't Groen SLM, de Faria DOS, Iuliano A, van den Hout JMP, Douben H, Dijkhuizen T, Cassiman D, Witters P, Barba Romero MÁ, de Klein A, Somers-Bolman GM, Saris JJ, Hoefsloot LH, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP.  Mol Ther Methods Clin Dev. 2020 Jan 13;17:337-348. doi: 10.1016/j.omtm.2019.12.016. PMID: 32071926; PMCID: PMC7013133.

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity. Niño MY, In 't Groen SLM, Bergsma AJ, van der Beek NAME, Kroos M, Hoogeveen- Westerveld M, van der Ploeg AT, Pijnappel WWMP. Hum Mutat. 2019 Nov;40(11):1954-1967. doi: 10.1002/humu.23854. Epub 2019 Jul 29. PMID: 31254424; PMCID: PMC6851659.

A genetic modifier of symptom onset in Pompe disease. EBioMedicine. Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP. 2019 May;43:553-561. doi: 10.1016/j.ebiom.2019.03.048. Epub 2019 Mar 25. PMID: 30922962; PMCID: PMC6562017.

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options. Bergsma AJ, van der Wal E, Broeders M, van der Ploeg AT, Pim Pijnappel WWM. Int Rev Cell Mol Biol. 2018;335:85-141. doi: 10.1016/bs.ircmb.2017.07.008. Epub 2017 Sep 12. PMID: 29305015.

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease. Van der Wal E, Bergsma AJ, Pijnenburg JM, van der Ploeg AT, Pijnappel WWMP.  Mol Ther Nucleic Acids. 2017 Jun 16;7:90-100. doi: 10.1016/j.omtn.2017.03.001. Epub 2017 Mar 14. PMID: 28624228; PMCID: PMC5415969.

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells. Van der Wal E, Bergsma AJ, van Gestel TJM, In 't Groen SLM, Zaehres H, Araúzo-Bravo MJ, Schöler HR, van der Ploeg AT, Pijnappel WWMP. Mol Ther Nucleic Acids. 2017 Jun 16;7:101-115. doi: 10.1016/j.omtn.2017.03.002. Epub 2017 Mar 14. PMID: 28624186; PMCID: PMC5415960.

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides. Bergsma AJ, In 't Groen SL, Verheijen FW, van der Ploeg AT, Pijnappel WWMP. Mol Ther Nucleic Acids. 2016 Sep 13;5(9):e361. doi: 10.1038/mtna.2016.75. Erratum in: Mol Ther Nucleic Acids. 2016 Nov 29;5(11):e391. PMID: 27623443; PMCID: PMC5056997.

Characterization and dynamics of pericentromere-associated domains in mice. Wijchers PJ, Geeven G, Eyres M, Bergsma AJ, Janssen M, Verstegen M, Zhu Y, Schell Y, Vermeulen C, de Wit E, de Laat W.  Genome Res. 2015 Jul;25(7):958-69. doi: 10.1101/gr.186643.114. Epub 2015 Apr 16. PMID: 25883320; PMCID: PMC4484393.

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach. Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pim Pijnappel WW. J Neuromuscul Dis. 2015;2(s1):S39. PMID: 27858633.

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach. Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pijnappel WW.  Hum Mutat. 2015 Jan;36(1):57-68. doi: 10.1002/humu.22705. Epub 2014 Dec 1. PMID: 25243733.

A central role for TFIID in the pluripotent transcription circuitry. Pijnappel WW, Esch D, Baltissen MP, Wu G, Mischerikow N, Bergsma AJ, van der Wal E, Han DW, Bruch Hv, Moritz S, Lijnzaad P, Altelaar AF, Sameith K, Zaehres H, Heck AJ, Holstege FC, Schöler HR, Timmers HT. Nature. 2013 Mar 28;495(7442):516-9. doi: 10.1038 ature11970. Epub 2013 Mar 17. PMID: 23503660.

I am a core teacher in the Genomics in Society master program, where I coordinate the gene-editing course. Furthermore, I teach in the minors genetics in society and regenerative medicine and perform several other teaching tasks.

I am a staff member of the Center for lysosomal and metabolic diseases. I am also in the organizing committee of the Dutch Antisense Therapeutics Symposium.

I was awarded the Wadman-van Gennip prize for most promising young investigator by the "Vereniging voor erfelijke stofwisselingziekten Nederland" (ESN). This prize is awarded to a young researcher that has performed excellent research in the field of rare inherited metabolic diseases.