Gordon Research Conference on Lysosomal Diseases
At this year’s Gordon Research Conference on Lysosomal Diseases (LSD) in Barcelona, Spain (May 14-19), our CEO Frank Stehr and Head of Research Herman van der Putten met and discussed with NCL and LSD researchers. For the GRC program please consult the GRC website. The GRC meeting addressed the latest findings that advance knowledge of the fundamental function of lysosomes including how their function is affected in lysosomal diseases, and also how the knowledge gained will facilitate broader applications in biology and medicine including therapeutics.

Frank and Herman also took the opportunity to personally hand over the certificate of the 10th NCL Research Award to Prof. Monther Abu-Ramaileh from Stanford University, USA (picture). He and his team published last year groundbreaking CLN3 research in Nature on the role of CLN3 in lysosomal function. We are happy to announce that we continue to support Monther`s team (see "New project grant" in this Newsletter) and hope for more groundbreaking discoveries to come on CLN3`s role in lysosomal function and dysfunction, juvenile NCL, and novel routes for therapy.
Monther presented a well-received talk in Barcelona covering published and unpublished data, as did Prof. Alessia Calcagnì from Baylor College of Medicine, USA, who also receives funding from our NCL Founation. Alessia recently published a paper in Nature Communications showing that CLN3 deficiency leads to mis-trafficking of the M6PR and defects in autophagic lysosomal reformation. Julia Heiby, our recent NCL Research Award winner, presented a poster at the GRC on her work documenting changes in the lysosomal proteome.

Frank and Herman also met and discussed with Dr. Ineka Whiteman, Head of Research and Medical Affairs from the Batten Disease Support & Research Association (BDSRA), and Dr. Angela Schulz from the UKE in Hamburg, Germany. Angela is organizing the International NCL Congress that will take place in Hamburg from September 26-30. On September 26th, we will jointly invite non-profit organizations to meet and discuss possible avenues of future collaboration.

2nd Dutch Antisense Therapeutics Symposium

Herman also attended recently the 2nd Dutch Antisense Therapeutics Symposium (DATS) June 1-2 at the Radbaud University in Nijmegen, in The Netherlands (for program see here). A welcome “déjà vu” for Herman with a familiar town and place. He left 1981 after obtaining his PhD.

DATS was focused on the application of anti-sense oligonucleotide (ASO) therapies in medicine. Two keynote speakers covered very interesting topics. Dr. Aurélie Goyenvalle presented ASO-mediated splice switching approaches for the treatment of neuromuscular diseases and has published numerous papers on this topic, including a recent review entitled “Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides”.

Dr. Timothy Yu presented pathways for patient-centered interventional genomic medicine. Tim presented progress on a number of N=1 trials. Tim was the principal author of the paper describing the Milasen CLN7 N=1 ASO trial. Recently, Tim also published a review in Nature entitled “A framework for individualized splice-switching oligonucleotide therapy”. Finally, Ronald Jansen, president of the Beat Batten Foundation in The Netherlands gave a talk entitled “Batten Disease: a patient perspective”. Regarding CLN3 and ASO therapy, effort continue to further validate and hopefully develop ASO-based therapies including the approach to skip an exon in the CLN3^D7/8 allele that is present in most patients, in the hope to generate an at least partially functional protein that can restore CLN3 function in the lysosome.