COST Action Members from the Netherlands
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Prof. Annemieke Aartsma-Rus |
RESEARCH TOPIC
| I am a pioneer of exon skipping for Duchenne muscular dystrophy (DMD). In the past 5 years my research has focused on generating the optimal tools and research environment for developing therapies. We have established that very low levels of dystrophin have therapeutic effects and generated a humanized mouse model allowing for the first time testing of human exon skipping compounds in preclinical studies. My group has provided detailed natural history data for regularly used muscular dystrophy models. We have established a pre-clinical "validation lab", allowing companies and patient organizations to run confirmatory studies in a standardized manner. Furthermore, my group is exploring therapies to improve muscle quality in DMD/muscular dystrophy animal models. To improve exon skipping my group has done pre-clinical studies with different chemistries and for the first time showed increased exon skipping for 2-O-methyl-phosphorothioate compounds due to muscle- and heart-homing peptide conjugates. I am collaborating to develop exon skipping for other diseases, e.g. Huntington, CADASIL. To facilitate clinical development of exon skipping technology, I am involved in multistakeholder networking and education for patients, academics and regulators. |
Affiliation
Human Genetics,
Aartsma-Rus Lab
Leiden University Medical Center
Albinusdreef 2, 2333 ZA
Leiden, Netherlands
ORCID: 0000-0003-1565-654
WWW:
ACTION VICE-CHAIR, MC MEMBER
MEMBER OF WG2 & WG4
KEYWORDS: exon skipping, splicing, antisense oligonucleotides, stakeholder communication
MODEL: cell culture, mice
TISSUE: brain, heart, muscle
DISORDERS: Duchene Muscular Dystrophy
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Dr Alex Garanto |
RESEARCH TOPIC
I started my PhD project in the field of Genetics after finishing my studies in Biology at the University of Barcelona. During my PhD, I studied the function of a frequently mutated gene in the Spanish population and I was fascinated by the eye. Since then, I have been focusing my career towards the understanding of the molecular mechanisms underlying inherited retinal diseases and search for therapeutic approaches in order to halt or delay the progression of the disease. As a postdoc, I worked on the development of antisense oligonucleotides to target one of the most recurrent mutations in inherited retinal diseases, a deep-intronic variant in the CEP290 gene. This variant leads to a pseudoexon insertion in the final transcript. Using antisense oligonucleotides this pseudoexon could be removed and the correct transcript restored. Following a similar approach, I have also been involved in the design and testing of antisense technology for different retinal genes such as ABCA4, CHM or USH2A. Currently, I am starting my own group on therapeutic DNA and RNA editing at the Department of Human Genetics of the Radboudumc. My research focuses on the development of novel strategies to correct the effect of mutations underlying inherited retinal diseases either at DNA or RNA level, as well as the development of reliable cellular (retinal) models to assess those therapeutic approaches.Affiliation
Human Genetics,
Alex Garanto Lab
Radboudumc
Nijmegen, Netherlands
ORCID: 0000-0001-5721-1560
WWW: alex-garanto_page
WG2 LEADER, MC MEMBER
MEMBER OF WG2, INTERESTED IN WG3 TASKS
KEYWORDS: retinal dystrophies, splicing modulation, antisense oligonucleotides, retina, RNA therapies, mouse models, cellular models, iPSCs, eyeexon skipping, splicing, antisense oligonucleotides, stakeholder communication
MODEL: cell culture, humans, mice, zebrafish
TISSUE: eye
DISORDERS: Inherited retinal disease
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Dr Ronald Buijsen |
RESEARCH TOPIC
| Descriprtion |
Affiliation
Human Genetics,
Willeke van Roon-Mom Lab
Leiden University Medical Center
Albinusdreef 2, 2333 ZA
Leiden, Netherlands
ORCID: 0000-0002-9722-8110
WWW:
ACTION MEMBER
MEMBER OF WG2, INTERESTED IN WG1 TASKS
KEYWORDS: ataxia, repeat expansion disorders, polyglutamine diseases, SCA1, spinocerebellar ataxia type1, hiPSC, antisense oligonucleotides, neuroscience, Fragile-X associated tremor/ataxia syndrome
MODEL: cell culture, humans, mice, organoids
TISSUE: brain
DISORDERS: Neurological and neurodegenerative diseases, Neuromuscular disorders
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Dr Ingrid Verhaart |
RESEARCH TOPIC
I am working on Duchenne muscular dystrophy. Currently I am working on pre-clinical research into potential therapies for DMD. This focuses both on primary and secondary therapies. We are working on the exon skipping therapy, testing potential improved version of AONs in cell and mouse models. Furthermore we are testing potential compounds that could enhance muscle quality, thereby retaining muscle tissue and function. These can be compounds for which another lab has shown positive results for DMD. Independent validation is very important to ensure the compound is indeed improving DMD pathology. It can also be interesting compounds used in other disease areas and that could be repurposed for DMD.
Affiliation
Human Genetics,
Leiden University Medical Center
Albinusdreef 2, 2333 ZA
Leiden, Netherlands
ORCID: 0000-0001-7348-7989
WWW:
ACTION MEMBER
MEMBER OF WG1, INTERESTED IN WG2 & WG3 TASKS
KEYWORDS: Duchenne muscular dystrophy, muscle quality, antisense oligonucleotides, exon skipping
MODEL: cell culture, mice
TISSUE: Heart, Muscle
DISORDERS: Muscular dystrophies/atrophies, Duchene Muscular Dystrophy, Neuromuscular disorders
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COST function: Substitute MC Member
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COST function: Member
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COST function: Member
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