The 2025 edition of the Dutch Antisense Therapeutics Symposium was a showcase of cutting-edge research and vibrant scientific exchange, but one moment stood out above the rest: Phd student Imke Schuurmans was awarded Best Oral Presentation for their outstanding talk on "Targeting AASS improves neurotoxicity and mitochondrial function in patient-derived ...

In April 2024, the Charlie SMB community came together for its much-anticipated annual meeting, a gathering that beautifully blended scientific rigor with camaraderie and celebration. This year’s event proved to be one of the most vibrant yet, marked by insightful discussions, forward-looking plans, and an unforgettable evening of Italian hospitality. The ...

Building on the legacy of the esteemed IRDiRC Conference series and the RE(ACT) Congress series, the joint event on rare diseases research took place in Brussels, Belgium, 5-7 March 2025. In the photo, Patricia da Silva-Buttkus, German Mouse Clinic, Munich, presents her talk “CHAnging Rare disorders of LysInE metabolism (CHARLIE) – mouse phenotyping ...

Phd student Muna Abedrabbo recently received the 20th Annual OTS Meeting 2024 best poster award. This price is awarded once a year by the Oligonucleotide Therapeutics Society in Canada.

In this meeting Muna presented her PhD project. The poster focused mainly on the Leavitt Lab's progress in screening the antisense oligonucleotides designed ...

Phd student Imke Schuurmans recently received the 15th Annual DSSCR symposium 2024 best presentation award. This price is awarded once a year by Dutch Society for Stem Cell Research in the Netherlands.

This meeting aims to unite researchers from the Dutch stem cell community, thereby promoting knowledge exchange between the students.

In ...

The Annual Symposium of the Society for the Study of Inborn Errors of Metabolism took place in Porto, Portugal this year. A number of people from the Charlie consortium presented at the SSIEM 2024.

On the photo Prof Clara van Karnebeek, chair of the Charlie consortium presenting “New treatment for PDE-ALDH7A1: First proof-of-principle of upstream ...

We are pleased to announce that Dr. Albert Carbonell (Representative of the Scientific Committee of the Spanish association FamiliasGA and Research Associate at the Molecular Biology Institute of Barcelona, IBMB-CSIC), who has so far worked as a family representative along with Hanka Dekker and other representatives, is also joining the CHARLIE project ...

The annual meeting of the Spanish Association of Glutaric Aciduria took place on June 8, 2024. It was a very participatory day, with several presentations and more than 70 participants from Spain and Portugal.

An update on the Charlie project was presented by Dr. Albert Carbonell. Dr. Berta Zamora provided an update on the neurocognitive ...