European Study Group on Lysosomal Diseases Virtual Summer Meeting 2021

European Study Group on Lysosomal Diseases Virtual Summer Meeting 2021

Format:3 videos + 1 pdf, size: 35.3 GB

Course Audience: pathology physician

June 28 (Video MP4 Format)

June 29 (Video MP4 Format)

June 30 (Video MP4 Format)

ESGLD 2021 _ ESGLD (PDF Format)

*** Detail:

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