ESGLD Virtual Summer Meeting 28th – 30th June 2021- Final Programme details!!!

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Day 1 (Monday 28th June)


12pm (BST)/1pm (CEST) Welcome introduction – Brian Bigger – ESGLD Chairman, UoM, Manchester, UK

Mechanisms of LSDs

Session 1 (Chair Eeva-Liisa Eskelinen)

12.10pm (BST)/1.10pm (CEST)    Invited speaker

Carmine Settembre – TIGEM, Naples, Italy

Selective autophagy dysfunctions in lysosomal storage disorders.

12.45pm (BST)/1.45pm (CEST)    Ulrich Matzner – Deletion of fatty acid amide hydrolase reduces lyso-sulfatide levels but aggravates the disease phenotype of a mouse model of metachromatic leukodystrophy

1.05pm (BST)/2.05pm (CEST)       Alessia Calcagni – CLN3 protein is at the crossroad between the biosynthetic/secretory compartment and lysosomes

1.25pm (BST)/2.25pm (CEST)     Coffee break

Session 2 (Chair Fran Platt)

1.45pm (BST)/2.45pm (CEST)       Invited speaker

Judith Klumperman – UMC Utrecht, Utrecht, Netherlands

The role of the HOPS complex in lysosomal biogenesis and diseases

2.20pm (BST)/3.20pm (CEST)       Oriana Mandolfo – Systemic immune challenges exacerbate inflammation and cognitive decline in a mouse model of MPSIIIA

2.40pm (BST)/3.40pm (CEST)       Lea Vidatic – BACE1 inhibition ameliorates neuroinflammation in organotypic brain slices of Niemann-Pick type C disease murine model

3pm (BST)/4pm (CEST)  Coffee break

Session 3 (Chair Paul Saftig)

3.20pm (BST)/4.20pm (CEST)       Invited speaker

Christian Haas – LMU Munich DZNE, Munich, Germany

Lysosomal dysfunction in microglia drives neuronal TDP-43 pathology in PGRN related FTLD

3.55pm (BST)/4.55pm (CEST)      Antonietta Tarallo – Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.

4.15pm (BST)/5.15pm (CEST)       Selected abstract 6 Jose Clemente-Ramos – Using S. pombe to understand the pathogenesis of CLN3 disease

4.35pm (BST)/5.35pm (CEST)      Group discussion on Mechanisms of LSDs (Chaired by Paul Saftig and Including Invited speakers from the day)

4.55pm (BST)/5.55pm (CEST)   Day 1 main conference closes

5 – 5.30pm (BST)/6 – 6.30pm (CEST) Day 1 – Zoom Drinks Reception (Everyone Welcome – Bring Your Own Beer!) Meeting ID will follow

 Day 2 (Tuesday 29th June)

Lysosomal Function

Session 1 (Chair Andrea Ballabio)

12pm (BST)/1pm (CEST)   Keynote speaker

Juan Bonifacino – NIH, Bethesda, USA

Molecular mechanisms of lysosome positioning

Bright ideas/flash talks

12.35pm (BST)/1.35pm (CEST)   S.L.M. in ‘t Groen – Uncovering pathological mechanisms in Pompe disease using a 3D-skeletal-muscle-on-a-chip system.

12.40pm (BST)/1.40pm (CEST)    Mara Reichmann – Loss of TMEM55B leads to subfertility in male mice

12.45pm (BST)/1.45pm (CEST)   Florian Bleimbaum – Co-expression network analysis identifies NHLRC3 as a new lysosomal protein to control endothelial cell homeostasis

12.50pm (BST)/1.50pm (CEST)   Tereza Andreou – Brain-targeted Haematopoietic Stem Cell Gene Therapy for severe Mucopolysaccharidosis I (Hurler) – does one peptide tag fit all?

12.55pm (BST)/1.55pm (CEST)    Jane Potter – Ex-vivo autologous haematopoietic stem cell gene therapy in mucopolysaccharidosis type IIIA

1pm (BST)/2pm (CEST)                  Q&A group discussion (Chair Andrea Ballabio)

1.20pm (BST)/2.20pm (CEST)     Coffee break

Session 2 (Chair Mia Horowitz)

1.40pm (BST)/2.40pm (CEST)      Invited speaker

Chiara di Malta – TIGEM, Naples, Italy

Transcriptional regulation of mTORC1 signaling in physiology and cancer

2.15pm (BST)/3.15pm (CEST)      M Klussendorf – Cytoplasmic retention of acetylated transcription factor EB

2.35pm (BST)/3.35pm (CEST)      Sonke Rudnik – S-palmitoylation determines TMEM55B-dependent positioning of lysosomes

2.55pm (BST)/3.55pm (CEST)     Coffee break

Session 3 (Chair Thomas Braulke)

3.15pm (BST)/4.15pm (CEST)      Invited speaker

James H. Hurley – University of California, Berkley, USA

Coordination of the Rag GTPase cycle on lysosomes

3.50pm (BST)/4.50pm (CEST)      Dominic Winter – Characterization of Lysosomal Protein Interactions and Structures by Cross Linking Mass Spectrometry

4.10pm (BST)/5.10pm (CEST)      Shroddha Bose – Impact of altered chloride transport on lysosomal morphology and function


4.30pm (BST)/5.30pm (CEST)      Group discussion on lysosomal function (Chaired by Andrea Ballabio and Including Invited speakers from the day)

5.00pm (BST)/6.00pm (CEST)      Day 2 main conference closes

5 – 5.30pm (BST)/6 – 6.30pm (CEST) Day 2 – Zoom Drinks Reception (Everyone Welcome – Bring Your Own Beer!) Meeting ID will follow


Day 3 (Wednesday 30th June)

Therapies and diagnosis

Session 1 (Chair Francisca Coutinho)

12pm (BST)/1pm (CEST)                Invited speaker

Sandra Alves – Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA), Portugal

Oligonucleotide-based therapies for inherited metabolic diseases: some examples of their application in Lysosomal Storage Disorders.

12.35pm (BST)/1.35pm (CEST)    Xuafeng Pan – Oral Glucosamine Ameliorates Aggravated Neurological Phenotype in Mucopolysaccharidosis III Type C Mouse Model Expressing Misfolded HGSNAT Variant

12.55pm (BST)/1.55pm (CEST)    Atze Bergsma – Identification of aberrant splicing events that induce nonsense-mediated decay and development of splice switching antisense oligonucleotides for Pompe disease

1.15pm (BST)/2.15pm (CEST)    Coffee break


Session 2 (Chair Pim Pijnappel)

1.35pm (BST)/2.35pm (CEST)      Invited speaker

Federico Mingozzi – Spark Therapeutics, Philadelphia, USA

Targeting the liver to develop in vivo gene therapies for lysosomal storage diseases

2.10pm (BST)/3.10pm (CEST)      Alessandro di Spiezio – Enzyme replacement therapy with pro cathepsin D in NCL disease

2.30pm (BST)/3.30pm (CEST)      Valeria De Pasquale – Targeting heparin sulfate proteoglycans as a novel treatment for neuropathology in Mucopolysaccharidosis IIIB

2.50pm (BST)/3.50pm (CEST)    Coffee break

Session 3 (Chair Brian Bigger)

3.10pm (BST)/4.10pm (CEST)      Invited speaker

Eric Adler – UC San Diego, La Jolla, USA

               New Therapy for Danon Disease (TBC)

3.45pm (BST)/4.45pm (CEST)      Shaun Wood – Long-term Outcomes of Brain-targeted Haematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis Type II in Pre-Clinical MPSII Mouse Model

4.05pm (BST)/5.05pm (CEST)      Nicola Brunetti – Safety and efficacy of liver-directed AAV-mediated gene therapy for mucopolysaccharidosis type VI

4.25pm (BST)/5.25pm (CEST)      Group discussion on therapies and diagnosis (Chaired by Brian Bigger and Including Invited speakers from the day)

4.45pm (BST)/5.45pm (CEST)    Coffee break

4.55pm (BST)/5.55pm (CEST)      Award for best presentation

5pm(BST)/6pm (CEST)                   Award for best flash talk

5.05pm (BST)/6.05pm (CEST)    Concluding remarks

5.10pm (BST)/6.10pm (CEST)      Conference close