Alex Garanto, PhD (Radboudumc)
Alex Garanto conducted his doctoral studies at the Department of Genetics of the University of Barcelona. His studies focused on the functional study of a gene recurrently mutated in the Spanish individuals suffering from Retinitis Pigmentosa, a subtype of inherited retinal disease. After his doctoral defense he stayed one year as a post-doc elucidating the role of ubiquitin and sumo genes during retinal differentiation and function. In 2012, he moved to to Nijmegen to work on antisense technology to correct splicing defects for inherited retinal diseases. He has actively been involved in the pre-clinical research for CEP290 and ABCA4. He is currently leading his own group on Molecular Therapies for Neurometabolic Diseases and retinal diseases at the Department of Pediatrics and the Department of Human Genetics of the Radbodumc in Nijmegen.
Jeroen Bremer, PhD (University Medical Center Groningen)
Jeroen Bremer obtained his PhD at the department of dermatology at the University Medical Center Groningen (UMCG). During his PhD, he investigated antisense mediated exon skipping as potential systemic therapeutic approach for dystrophic epidermolysis bullosa (DEB). DEB is a heritable skin blistering disease which is characterized by severe blistering upon minor trauma. After showing proof of concept during his PhD, he now works as a post-doc at the department of genetics at the UMCG, trying to identify biomarkers and optimize the approach in order to take exon skipping for DEB to the clinic. After his post-doc he will be re-joining the department of dermatology as head of the research laboratory.
Atze J. Bergsma, PhD (Erasmus MC Rotterdam)
Dr. Bergsma graduated as a scientist in molecular and cellular life sciences at the Utrecht University in the Netherlands. He obtained his PhD at the Erasmus MC Rotterdam where he studied the potential of an alternative treatment for Pompe disease, a rare lysosomal storage disorder. The new treatment was based on the use of antisense oligonucleotides to correct aberrant splicing caused by the most common variant in Pompe disease. He continued this research as a postdoc and is working on further development of this treatment with a final goal to move the therapy forward to clinical implementation. Furthermore, he works on improvement of diagnostic methodologies for lysosomal and metabolic diseases to aid in an increased diagnostic yield.
Ronald A.M. Buijsen, PhD (Leiden University Medical Center)
In 2012, Dr. Buijsen started his PhD at the Clinical Genetics department of the Erasmus Medical Center in Rotterdam. During his PhD he investigated experimental approaches towards therapeutic intervention for the repeat-associated, neurodegenerative disorder, Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). To identify the roles of expanded CGG repeat RNA and the polypeptides translated from these repeats through a mechanism called RAN (repeat associated non-AUG) translation, he developed new neuronal cell models and mouse models. In these models he showed that the use of AONs and small RNA binding compounds that shield the CGG repeat and block RAN translation have great potential to ameliorate FXTAS. In 2016, Dr. Buijsen moved to the department of human genetics at the LUMC to start as an independent postdoc working on spinocerebellar ataxia type 1 (SCA1). The research was funded by the Dutch SCA1 Families Fund and the Dutch Brain Foundation. The aim of this postdoc project is to develop an AON-based therapy targeting the ataxin-1 transcript. Ronald designed various AON-based intervention strategies and is currently testing and optimizing the efficiency of these strategies in patient-specific cell models.
Pauline de Graaf, MA (Dutch Center for RNA Therapeutics)
Pauline obtained her Master’s degree in English language and literature from Leiden University. She developed an interest in research support and, in 2006, she started her career at the LUMC as project assistant for a large international consortium on rare tumors of bone in EC Framework Programme 6. When the project ended, Pauline moved to the directorate of research policy where she became head of the LUMC graduate school office. Since May 2022, she works as project manager for the Dutch Center for RNA Therapeutics at the Human Genetics department of Leiden University Medical Center. She is responsible for DCRT communication and general administration. The aim of the Dutch Center for RNA Therapeutics is to develop individualized therapy with antisense oligonucleotides (ASOs) that mediate splicing of mRNA for eligible patients with a rare genetic disorder harboring a unique mutation. DCRT currently works on the identification of eligible genes and finding candidate patients.