ESGLD Virtual Summer Meeting
28th to 30th June 2021
Three afternoons of talks covering the following topic areas:
- Mechanisms of LSDs
- Lysosomal Function
- Therapies and Diagnoses
A message from the ESGLD Chairman
About the European Study Group on Lysosomal Diseases
The ESGLD promotes collaboration and exchange between European research groups in laboratory and clinical disciplines which are interested in lysosomal storage diseases.
The Study Group was founded in 1978 as a small informal group of scientists and has grown to become an organisation of over 90 groups from 22 European countries including laboratories as well as diagnostic and clinical groups.
Mechanisms of Lysosomal Storage Disorders (LSDs)
During this session, 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.
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.
Therapies and Diagnoses
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.
ESGLD Virtual Summer Meeting 2021 – Programme
Please note ALL times are UK time (BST)
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) José 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
5.00pm-5.30pm (BST)/6.00pm-6.30pm (CEST) Day 1 - Zoom Drinks Reception
(Everyone Welcome - Bring Your Own Beer!) Meeting ID will follow
Day 2 Tuesday 29th June
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
ESGLD 2021 Faculty
ESGLD Chairman, UoM, Manchester, UK
Brian Bigger was awarded a Bachelors degree from the University of Bath in Applied Biology. His PhD was conducted in the Gene Therapy Research Group, Imperial College, London, where he worked with Professor Charles Coutelle on developing a gene delivery vehicle for mitochondrial gene therapy. On completion of his PhD in 2000, Dr Bigger joined Dr Mike Themis, Imperial College, London to work on a Wellcome Trust collaborative project with Cancer Research UK, investigating gene delivery to stem cells for liver diseases. In 2004 he joined Dr Suzanne Watt’s group in Oxford University and the National Blood Service as a Senior Research Scientist to work on mechanisms of stem cell homing. In 2006 Dr Bigger set up the Stem Cell & Neurotherapies laboratory at the University of Manchester and the Royal Manchester Children’s hospital.
TIGEM, Naples, Italy
Dr. Carmine Settembre graduated in 2002 in pharmaceutical chemistry at the university of Naples “Federico II”. In 2002 he joined TIGEM institute as PhD student, then he moved in the United States as post-doctoral fellow first at Columbia University in New York and then at the Baylor College of Medicine, in Houston. In 2011 he became assistant professor at the Baylor college of medicine. In 2013, thanks to the Dulbecco Telethon Institute (DTI) career award program he set up his own laboratory at TIGEM. In 2018 he became associate professor in Histology and Embryology at the University of Naples “Federico II”.
UMC Utrecht, Utrecht, Netherlands
Judith Klumperman is since 2001 professor of Cell Biology at the University Medical Centre Utrecht in The Netherlands. Her lab is widely recognized as expertise centre for electron microscopy (EM), especially immuno-EM and correlative microscopy (CLEM). By CLEM, molecular, dynamic and functional information from light or live cell microscopy is directly correlated to EM images. Judith’s current research focuses on the role of tethering complexes in lysosome biogenesis and the role of lysosomes in cancer and neurodegenerative diseases. Judith is chair of the national Netherlands Electron Microscopy Infrastructure.
LMU Munich DZNE, Munich, Germany
Christian Haass graduated in Molecular Biology at the University of Heidelberg, Germany. He was a postdoc and Assistant professor of Neurology at the Harvard Medical School in the Institute of Dr. Dennis Selkoe. Since 1999 he is the head of the division of Biochemistry at the Ludwig-Maximilians University. Haass is also the coordinator of the German Center for Neurodegenerative Disorders (DZNE) in Munich and the speaker of the DFG cluster of excellence “Systems Neurology (SyNergy)”. Haass received many awards, among them the Brain Prize in 2018.
NIH, Bethesda, USA
Dr. Juan S. Bonifacino is a National Institutes of Health (NIH) Distinguished Investigator and Associate Scientific Director for the Neuroscience and Cellular and Structural Biology Division (NCSBD) of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH. Bethesda, Maryland, USA. His laboratory studies the molecular mechanisms of intracellular protein and organelle transport, and the diseases that result from dysfunction of these mechanisms.
Chiara di Malta
TIGEM, Naples, Italy
I graduated in 2005 at the University of Naples Federico II. Then I joined the TIGEM as an Open University PhD student, in Andrea Ballabio’s laboratory. My main PhD research project was focused to the study of the mechanisms leading to the neurodegeneration in lysosomal storage disorders (LSDs). I spent more than three years in the United States where I worked at Baylor College of Medicine (Houston) as visiting PhD student. During this period, I also contributed to the identification of the Transcription factor EB (TFEB) as a master regulator of lysosome biogenesis and autophagy. As postdoctoral researcher I discovered a new transcriptional regulation, mediated by TFEB, controlling mTORC1 signaling in response to nutrients. More recently, I demonstrated that this mechanism promotes cystogenesis and tumor growth in Birt-Hogg-Dube’ syndrome, a genetic condition due to loss of function mutations in the gene encoding FLCN, a key player of mTORC1 signaling. I’m an independent investigator at Tigem since January 2021. My research activity is currently supported by Kidney Cancer Association, Worldwide Cancer Research and Telethon foundation.
James H. Hurley
University of California, Berkley, USA
James (“Jim”) Hurley is a professor in the Department of Molecular and Cell Biology at the University of California, Berkeley. He graduated in Physics from San Francisco State University and obtained his Ph.D. in Biophysics in 1990 from the University of California, San Francisco. He was a senior investigator in the intramural program of the National Institutes of Health from 1992-2013, and joined the faculty of the University of California, Berkeley in 2013. He is a member of the National Academy of Sciences.
Dr. Hurley uses structural biology, biophysics, biochemistry, and cell biology approaches to understand the structure and function of cell membranes in health and disease. He is known for his work on the structure and mechanism of the ESCRT membrane scission machinery, coated vesicle and endosome biogenesis, lipid transporters and second messenger systems, and the autophagy core complexes.
Dr. Hurley’s lab currently has four major projects in the general area of mechanistic membrane biology. He has a long-standing interest in the core mechanisms of autophagy, and is currently focusing on the structural and biophysical basis of mitophagy and its role in Parkinson’s Disease. He is investigating the mechanism of membrane scission by ESCRT complexes in the contexts of HIV budding and release from infected cells, autophagy, and membrane repair. In a third project, the hijacking of coated vesicle trafficking by HIV is being worked out by structural, reconstitution, and live cell imaging approaches. Lastly, in the newest project, he is using structural and biochemical approaches to study the roles of the lysosomal GTPase regulatory complexes FLCN-FNIP and C9orf72-SMRC8 in neurodegenerative diseases.
PhD in Molecular Biology in 2002 at Faculty of Sciences of the University of Porto. Auxiliary Researcher in the Department of Human Genetics in the Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA) and Head of the Lysosomal Storage Diseases Research Group.
Her scientific activity has been developed in the Human Genetics field with a major focus on LSDs. She has been conducting studies in order to expand the knowledge on the mutational spectrum of these diseases in Portugal. Mucolipidoses (ML) and mucopolysaccharidoses (MPS) are her major research focus. Presently, her group aims to develop RNA based therapeutic approaches to address these pathologies. The correction of LSDs causing mutations and the decrease of accumulated substrates are some of examples of aims that drive the development of such approaches.
Spark Therapeutics, Philadelphia, USA
Dr. Federico Mingozzi is the chief scientific officer at Spark Therapeutics, bringing two decades of experience in gene therapy, immunology, as well as biochemistry and molecular biology in both industry and academic settings.
Federico began his scientific career studying the genetic basis of bleeding disorders. At the Children’s Hospital Philadelphia (CHOP) he conducted pioneering studies on liver gene transfer with adeno-associated virus (AAV) vectors and immunology. Federico was involved in several first-in-human clinical studies of gene therapy based on the AAV vector platform while serving as the director of translational research the Center for Cellular and Molecular Therapeutics, at CHOP. He also led studies aimed at the characterization of human immune responses to AAV vectors and the development of strategies to modulate vector immunogenicity.
UC San Diego, La Jolla, USA
Eric Adler, MD, is a Professor of Medicine and Medical Director of the Heart Transplant Program at the University of California, San Diego (UCSD). He earned his medical degree from Boston University School of Medicine. He completed his internship and residency at the University of Washington and a cardiology fellowship at Mount Sinai School of Medicine. He is board certified in cardiovascular disease and advanced heart failure. He specializes in caring for patients with advanced heart failure, including those who need ventricular assist devices (VADs) or heart transplants.
His research is focsed on the study and treatment of cardiomyopathy. He has contributed to multipe papers demonstrating techniques for the isolation of enriched populations of cardiovascular progenitor cells from pluripotent stem cells and the utility of these cells for modeling cardiovascular disease. Recently, his work has led to the development of a novel gene therapy for Danon disease, a rare cardiovascular disorder associated with severe hypertrophic cardiomyopathy. The treatment is currently being evaluated in a Phase 1 trial. He also performs clinical research in heart failure and have high-impact publications on a variety of topics including cardiac transplant, mechanical circulatory support, palliative care and machine learning.
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