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Researcher

A.C.M. (Annelot) van Esbroeck, PhD

Assistant Professor

  • Department
  • Clinical Genetics
  • Focus area
  • Antisense Oligonucleotide –Personalized Therapy – Genetic Disorders - Rare Disorders – Neurodevelopmental Disorders
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About A.C.M. (Annelot) van Esbroeck, PhD

Introduction

I have always been fascinated by how a single variant in our DNA can lead to disease. Advances in genetic research have enabled us to identify genetic variants, however effective targeted therapies are still limited especially for rare disorders. To address this unmet need, I combine my expertise in molecular biology, disease modeling, genetics, and drug discovery to establish a research line focused on personalized RNA therapy development for ultra rare genetic neurodevelopmental disorders. 

Antisense oligonucleotides (ASOs), a form of RNA therapy, enable us to tackle genetic disease near its source by correcting RNA-levels of pathogenic variants to restore downstream cellular functions. By developing an efficient screening pipeline and versatile models for safety and efficacy screening, I aim to improve reliability and efficiency of the personalized ASO discovery process. This will contribute to a more inclusive therapeutic development model, that prioritizes patient needs and brings tailored genetic therapies closer to those still without treatment options.  

Field(s) of expertise

Life Sciences - Molecular Biology - Biochemisty  - Genetics – Drug Discovery 

Education and career

I obtained a BSc and MSc (cum laude) in Life Science & Technology (Delft University of Technology, Leiden University), followed by a PhD in Molecular Physiology (Van der Stelt Lab, Leiden University). I pursued my growing interest in disease modeling during my PostDoc and gained experience with induced pluripotent stem cells (iPSCs) in the Kushner lab (Psychiatry, Erasmus MC) and molecular mechanisms underlying rare neurogenetic disorders in the Elgersma lab (Clinical Genetics, Erasmus MC). In my role as assistant professor, I now combine my molecular, iPSC, genetic, and drug discovery expertise to establish an independent research line focused on personalized RNA therapy. 

Publications

Key Publications 

Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position. A.C.M. van Esbroeck, R.F.M. Verhagen, et al. (2025) Human Molecular Genetics. 

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. E. Niggl, A. Bouman, et al. (2023) American Journal Human Genetics.

Activity-based protein profiling reveals off-target proteins of the FAAH inhibitor BIA 10-2474. A.C.M. van Esbroeck, A.P.A. Janssen, et al. (2017) Science DOI: 10.1126/science.aaf7497 

Identification of α,β-Hydrolase Domain Containing Protein 6 as a Diacylglycerol Lipase in Neuro-2a Cells. A.C.M. van Esbroeck, V. Kantae, et al. (2019) Frontiers in Molecular Neuroscience. DOI: 10.3389/fnmol.2019.00286 
 

For a full publication list see my Pubmed or OrcID profile. 
 
https://pubmed.ncbi.nlm.nih.gov/?term=Annelot+van+Esbroeck&sort=pubdate  
 
https://orcid.org/0000-0003-0631-2403 

Teaching activities

I am co-promotor of three PhDs, supervise and mentor several early-career researchers, and contribute to education in the Genomics in Society research master. 

Other positions

Junior Board Member – Dutch Center for RNA Therapeutics (DCRT) 

Task Force Eligibility Criteria Individualized Therapy – International N-of-1 Collaborative (N1C) 

Scientific Committee – Nederlandse Vereniging voor Gen en Cel Therapie (NVGCT, Dutch association for gene and cell therapy) 

Departmental research management team, including task forces for PhD supervision, social safety and personal development  

Scholarships, grants, and awards

2024 - Stichting Vrienden van het Sophia Lichtjesdiner  

2024 - Stichting TSC Fonds  

2023 - Starting Grant  

2022 - TSC Alliance Postdoctoroal Fellowship