ESGLD Virtual Summer Meeting – VIDEOS

28th to 30th June 2021

Here you can enjoy HD recordings of the three afternoons of talks covering the following topic areas:

FULL PROGRAMME

Day 1    Mechanisms of LSDs

Mechanisms of Lysosomal Storage Disorders (LSDs)

During this session, chaired by Eeva-Liisa Eskelinen, our invited speakers will address recent key findings on the mechanisms that may contribute to LSDs including: endocytosis, autophagy, secretory pathways, and lysosomal dysfunction in microglia. Day 1 will conclude with a moderated group discussion on the mechanisms of LSDs.

Selective autophagy dysfunctions in lysosomal storage disorders

Deletion of fatty acid amide hydrolase reduces lyso-sulfatide levels but aggravates the disease phenotype of a mouse model of metachromatic leukodystrophy.

CLN3 protein is at the crossroad between the biosynthetic/secretory compartment and lysosomes

The role of the HOPS complex in lysosomal biogenesis and diseases

Systemic immune challenges exacerbate inflammation and cognitive decline in a mouse model of MPSIIIA

BACE1 inhibition ameliorates neuroinflammation in organotypic brain slices of Niemann-Pick type C disease murine model

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

Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease

Using S. pombe to understand the pathogenesis of CLN3 disease

Day 2    Lysosomal Function

Lysosomal Function

Francisca Coutinho chairs our session on Lysosomal Function. Perturbations in lysosomal function are the root cause of the LSDs. The day’s talks will cover a wide range of topics on lysosomal function with invited talks on the lysosomal damage response, transcriptional regulation of important signalling pathways and the relationship between the Rag GTPase cycle and the lysosome.

Molecular mechanisms of lysosome positioning

Co-expression network analysis identifies NHLRC3 as a new lysosomal protein to control endothelial cell homeostasis

Brain-targeted Haematopoietic Stem Cell Gene Therapy for severe Mucopolysaccharidosis I (Hurler): Does one peptide tag fit all?

Uncovering pathological mechanisms in Pompe disease using a 3D-skeletal-muscle-on-a-chip system

Ex-vivo autologous haematopoietic stem cell gene therapy in mucopolysaccharidosis type IIIA

Loss of the lysosomal transmembrane protein TMEM55B leads to subfertility in male mice

Lysosomal signalling abnormalities in human disease

Cytoplasmic retention of acetylated transcription factor EB

S-palmitoylation determines TMEM55B-dependent positioning of lysosomes Department of Biochemistry, University of Kiel, Germany

Coordination of the Rag GTPase cycle on lysosomes

Characterization of Lysosomal Protein Interactions and Structures by Cross Linking Mass Spectrometry Institute for Biochemistry and Molecular Biology, University of Bonn, Germany

Changes in lysosomal morphology with altered chloride transport by ClC-7

Day 3    Therapies and Diagnosis

Therapies and Diagnoses

Our final sessions are chaired by Francisca Coutinho. There is an ever expanding number of novel cell and gene therapies being evaluated in MPS clinical trials. In addition, improved disease biomarker technologies are emerging to allow earlier disease diagnosis. This session will provide insight on current clinical advancements in disease detection and treatment.

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

Oral Glucosamine Ameliorates Aggravated Neurological Phenotype in Mucopolysaccharidosis III Type C Mouse Model Expressing Misfolded HGSNAT Variant CHU Sainte-Justine Research Center, University of Montreal, Montreal, H3T 1C5, QC, Canada

Identification of aberrant splicing events that induce nonsense-mediated decay and development of splice switching antisense oligonucleotides for Pompe disease

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

Enzyme replacement therapy with pro cathepsin D in NCL disease

Targeting heparan sulfate proteoglycans as a novel treatment for neuropathology in Mucopolysaccharidosis IIIB

Inspiration from the Bedside: New Approaches to Danon Disease

Long-term Outcomes of Brain-targeted Haematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis Type II in a Pre-Clinical MPSII Mouse Model Institute: Faculty of Biology, Medicine and Health, University of Manchester

Safety and Efficacy of Liver-Directed Gene Therapy in Patients with Mucopolysaccharidosis Type VI

ESGLD Virtual Summer Meeting 2021 – Programme

Please note ALL times are UK time (BST)

Day 1  Thursday 8th September

14:00 – 18:00 Registration
18:00 – 18:15 Opening Ceremony – Welcome Address
18:15 – 18:30 Flash talk awards
18:30 – 19:30 KEYNOTE SPEAKER 1 Professor Simon Jones, Manchester University Hospitals NHS Foundation Trust, UK
19:30 – 20:00 BREAK
20:00 onwards Get together and dinner

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)    Xuefang 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

Contact ESGLD

For further information please contact:
Prof. Dr. Paul Saftig
Biochemisches Institut
CAU Kiel
Olshausenstr. 40
D-24098 Kiel
Germany
Tel: ++ 49-(0)431-8802216
secretary@esgld.org

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