معرفی
Dr. Peter van den Akker is a Clinical Geneticist and Research Fellow at the University of Groningen (UMCG) within the Faculty of Medical Sciences, Department of Genetics. He specializes in genetic skin disorders, particularly epidermolysis bullosa (EB). His clinical and research roles focus on developing therapies using RNA-based approaches such as exon skipping and gene silencing via antisense oligonucleotides. He holds a joint part-time position (until 2017) at the University of Dundee, Scotland, supported by DEBRA UK.
Education: MSc/MD from University of Groningen (2004), Clinical Geneticist certification (2012), and a PhD (cum laude, 2013) on dystrophic epidermolysis bullosa. His thesis explored genotype-phenotype correlations and somatic mosaicism under Professors Marcel Jonkman and Robert Hofstra.
Research emphasizes EB therapy development, particularly targeting COL7A1 mutations. Key achievements include demonstrating in vitro/in vivo efficacy of exon skipping in RDEB using AONs, supported by ZonMW and DEBRA UK grants. Collaborations include work with Prof. Irwin McLean at Dundee.
Awards include the ZonMW Clinical Fellowship (2015–2020), DEBRA UK Clinical Fellowship, and grants from Dutch Butterfly Child Foundation and others. He co-founded the International Dystrophic EB Patient Registry (deb-central.org).
Publications span 60+ articles in journals like Mol Ther Nucleic Acids, Exp Dermatol, and Br J Dermatol, focusing on EB pathophysiology, therapeutic strategies, and outcome harmonization in clinical trials.
