On April 29 & 30 the second 'live' Charlie Consortium meeting took place in the German Mouse Clinic (GMC). The consortium consisting of scientists, clinicians and patient representatives from various countries discussed among others:

• When is Charlie 1.0 a success
• Patients in the Lead; results from the survey posted on the ...

The FELIX laboratory at Radboud University in Nijmegen, the Netherlands, is an infrared free electron laser facility with a unique laboratory dedicated to molecular structure identification using novel experimental methodologies combining infrared spectroscopy and mass spectrometry.

In the context of the Charlie project, the team at FELIX ...

The bioRxive paper: Navigating Human Astrocyte Differentiation: Direct and Rapid one-step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network development is now available online.

Imke Schuurmans, Clara van Karnebeek, Alex Garanto en Nael Nadif Kasri, (from left to right on the photo) - all ...

In 2021, the International PDE consortium published updated consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1).

In this follow-on, a literature review was performed and nutrition management was evaluated through an international dietary ...

The Leavitt Lab at the Centre for Molecular Medicine and Therapeutics within BC Children’s Hospital Research Institute, Canada is dedicated to developing new treatments for hereditary brain diseases, such as Huntington disease, Frontotemporal Dementia, Lou Gehrig’s disease or amyotrophic lateral sclerosis, and Pyridoxine-dependent Epilepsy (PDE). ...

On Rare Disease Day we want to take a moment to thank all scientists, physicians and patients who work together in the Charlie project to develop and validate new therapies and biomarkers to avoid brain damage in GA1 and PDE.

Progress is presented and discussed in frequent online meetings and a face 2 face meeting will take place with the ...

November 30, 2023 Anna Mateu, affiliated to the hospital Clinic in Barcelona, defended her thesis titled "Development of a gene therapy strategy for the treatment of Glutaric Aciduria type I". She passed with distinction 'cum laude'. The Charlie consortium is very proud of her and hopes she will continue her important work in the consortium. ...

On November 28th and 29th, 2023 the European Joint Programm for Rare Diseases (EJPRD) Mid monitoring meeting took place in Luxembourg. All 18 EJPRD therapy development 2021 funded projects were presented. The CHARLIE project presented by prof Clara van Karnebeek on behalf of our consortium was well-received by the panel as well as colleague scientists ...