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
Education and career
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
Other positions
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 TSC Fonds
2023 - Starting Grant
2022 - TSC Alliance Postdoctoroal Fellowship