24th ESGLD Workshop and Graduate Course
7th to 11th September 2022
ESGLD 2022 Lancaster – FACULTY
The Faculty for the 24th ESGLD Workshop and Graduate Course is world-class. The Scientific Programme will be the best ever with networking returning to IN PERSON. We look forward to meeting you all in glorious Lancashire this September.
ESGLD 2022 KEYNOTE SPEAKERS
St Mary’s Hospital, Manchester, UK
Simon Jones is a consultant in paediatric inherited metabolic diseases at the Willink Unit in Genomic Medicine, St. Mary’s Hospital in Manchester, UK.
His major research interest is therapies for lysosomal storage diseases (LSDs).
He received his medical training at the Edinburgh University Medical School, Edinburgh, UK, with a BSc in Neurosciences. He moved to London and trained in Paediatrics at Guy’s and St. Thomas’ Hospital, London, UK. He has been working at the Willink Biochemical Genetics Unit in Manchester, UK since September 2005. Since 2008, he has been a consultant in paediatric inherited metabolic diseases at the Willink Unit and is now the clinical lead for the LSD service. The Willink Unit is now part of the Manchester Centre for Genomic Medicine at St. Mary’s Hospital, Manchester, UK. He is also the medical director of the NIHR Manchester children’s clinical research facility and an honorary MAHSC Professor in paediatrics and translational medicine.
Professor Jones has been actively involved in many phase I-IV international multicentre trials of novel therapies for LSDs. He is currently the principal investigator in a number of LSD trials, including several first in human gene therapy trials. He is the author of over 120 peer-reviewed papers and 5 book chapters.
IKMB, Institute of Molecular Biology in Kiel, Germany
Sabrina Jabs graduated in Biochemistry and Molecular Biology at the University of Hamburg and then joined the laboratory of Thomas Jentsch at the Max Delbrück Center for Molecular Medicine and the Leibniz Institute of Molecular Pharmacology in Berlin as a PhD student to study lysosomal ion homeostasis. She was a postdoc in the laboratory of Pascale Cossart at Institut Pasteur in Paris where she started focusing on host-microbe interactions. Since 2020, she’s an assistant professor at the Institute of Molecular Biology in Kiel, working on host-microbe interactions, inflammatory diseases and lysosome biogenesis.
The Babraham Institute, Cambridge, UK
Oliver Florey gained his degree from Imperial College London in 2006, and followed this by two post-doctoral positions in Weill Cornell Medical College and Memorial Sloan Kettering Cancer Center in New York. There he developed his interest in autophagy, especially a novel “non-canonical” autophagy pathway which utilises some of the autophagy machinery to conjugate ubiquitin-like ATG8 proteins directly to endolysosomal membranes. Since starting his independent lab at the Babraham Institute in 2014, his group has made important contributions to our molecular understanding of non-canonical autophagy and its functional relevance. Recent work has focused on the role of non-canonical autophagy in lysosomal homeostasis.
Denali Therapeutics, San Francisco, California, USA
Annie Arguello is an Associate Director in the In Vivo, Translational Sciences group at Denali Therapeutics, a biopharmaceutical company developing a broad portfolio of product candidates engineered to cross the blood-brain barrier for neurodegenerative diseases.
Annie led preclinical activities for DNL310 (ETV:IDS), an investigational brain-penetrant enzyme replacement therapy composed of IDS fused to Denali’s proprietary Enzyme Transport Vehicle (ETV). DNL310 is intended to treat both central nervous system and peripheral manifestations of MPS II (Hunter Syndrome) and is in an ongoing Phase 1/2 study.
She continues to lead efforts to identify translatable target, pathway, and disease biomarkers in relevant animal models of lysosomal dysfunction and neurodegeneration and to evaluate the biological effects of Denali’s therapeutic candidates.
Annie received her Bachelor of Sciences at St. Mary’s University in San Antonio TX. She then attended the University of California San Francisco and obtained her Ph.D in developmental neurobiology. Prior to Denali Therapeutics, she developed and established in vivo rodent models for optogenetics based therapies at Circuit Therapeutics.”
GRADUATE COURSE TEACHERS
Children’s Hospital in Hamburg, Germany
Thomas Braulke obtained his PhD in Neurochemistry from the University of Leipzig in Germany. He is professor of biochemistry at the University Medical Center Hamburg-Eppendorf, Germany, and has a long standing interest in the field of lysosomes and lysosomal storage disorders. In 1989 he became a group leader in the Institute of Biochemistry of Prof. Kurt von Figura at the University of Goettingen. He established a new Department for Biochemistry at the Children’s Hospital in Hamburg 1999 and joint 2019 the Department of Osteology & Biomechanics. His laboratory has a solid experience in a variety of molecular and cell biological techniques as well a significant expertise in protein chemistry and mouse analysis. His research is focused on the biogenesis of lysosomes and pathogenic mechanisms underlying lysosomal storage diseases. During the past 15 years mucolipidosis type II (MLII) and III as well as neuronal ceroid lipofuscinoses (NCL, Batten diseases) were of his particular interest. His group has identified the gene defect causing the partial or complete loss of mannose 6-phosphate residues on lysosomes enzymes in MLII/III. The analyses of the MLII mouse model provided new insights into pathogenic alteration of the brain, skeleton and the immune system. At present he is the speaker of the German/Dutch collaborative research group ‘Mechanisms of Lysosomal Homeostasis’ (FOR2625) supported by the German Research Foundation (DFG).
University of Cambridge, UK
David Rubinsztein is Professor of Molecular Neurogenetics and a UK Dementia Research Group Leader at the University of Cambridge. He is Deputy Director of the Cambridge Institute for Medical Research and Interim Director of the UK Dementia Research Institute at the University of Cambridge. Dr. Rubinsztein earned his MB ChB, BSc(Med), and PhD degrees from University of Cape Town. He came to Cambridge in 1993 as a Senior Registrar in genetic pathology. His research is focused in the field of autophagy, particularly in the context of neurodegenerative diseases. His laboratory has pursued the strategy of autophagy upregulation as a possible therapeutic approach in various neurodegenerative diseases and has identified drugs and novel pathways that may be exploited for this objective. He has made contributions that reveal the relevance of autophagy defects as a disease mechanism and to the basic cell biology of this important catabolic process. Rubinsztein was elected Fellow of the Academy of Medical Sciences (2004), EMBO member (2011), Fellow of the Royal Society (2017), and member of Academia Europaea (2022). He was awarded the Graham Bull Prize (2007), Thudichum Medal (2017), Roger de Spoelberch prize (2017) and the Goudie Medal (2020). He was identified as a Clarivates Analytics Highly Cited Researcher (2018, 2019, 2020,2021).
Jan van der Beek
UMC Utrecht, Netherlands
Jan van der Beek is a cell biologist and microscopist. Life-long curiosity and BSc and MSc degrees in Biology at Utrecht University shaped his passion for cell biology. He gained interest and experience in advanced microscopy during internships in the labs of Anna Akhmanova (Utrecht University) and Jonas Ries (EMBL). In his PhD in the lab of Judith Klumperman (UMC Utrecht), electron microscopy was the next challenge and addition to Jan’s expertise in cellular imaging. Currently, Jan combines different microscopic methods to study the internal organization of cells. His research focuses on the endo-lysosomal system and the role of the lysosomal tethering complex HOPS in regulation of endo-lysosomal processes. As a PostDoc in the lab of Judith Klumperman, he aims to elucidate the role of the HOPS complex in lysosomal fusion as well as in trafficking of lysosomal membrane proteins
SPPIN, Paris, France
Bruno Gasnier is a research director at the French National Center for Scientific Research (CNRS) and a group leader at the Saints-Pères Paris Institute for the Neurosciences (SPPIN), Université Paris Cité, France.
He studied at the École Normale Supérieure in Paris and received his Ph.D. degree in molecular pharmacology in 1985 from Pierre and Marie Curie University (now Sorbonne University). After a postdoc in Portugal, he got a CNRS scientist position in 1988 and started his independent research in 1994 at the Institut de Biologie Physico-Chimique in Paris. In 2011 he moved his lab to its current place at Université Paris Cité. He served as a CNRS Unit (alike department) director in 2005-2008 and 2014-2018. He co-chaired the 3rd Gordon Research Conference on Organellar Channels and Transporters.
Dr Gasnier’s research covers the dynamics of organelles and membrane transport in the compartmentalization of metabolism and signaling. His studies identified the vesicular transporter for inhibitory amino acids (VIAAT or VGAT) from synaptic vesicles, and characterized several lysosomal nutrient transporters such as LYAAT1, cystinosin, sialin and PQLC2. Current projects focus on the role of membrane transporters in lysosomal diseases and other diseases; on the mechanisms of some of these proteins; and on the interplay between metabolite transport and nutrient sensing/signaling.
Christian-Albrechts-University, Kiel, Germany
Markus Damme studied biology at the University of Göttingen and started his work on lysosomes and lysosomal storage diseases already with his Diploma studies. After obtaining the diploma, he did his PhD at the Department of Biochemistry in Göttingen in 2009. After a short PostDoc in Göttingen, he moved to Bielefeld University for another PostDoc, and started in 2013 his work in the Biochemical Institute at the Christian-Albrechts-University in Kiel. In Kiel he became a group leader and is still working in at the Biochemical Institute as an assistant professor. Markus Damme has published >60 peer reviewed papers mostly focused on lysosomal proteins, lysosomal biology and autophagy.
Tel Aviv University, Israel
Professor Horowitz graduated from the Weizmann Institute. Following a postdoctoral fellowship at MIT, Massachusetts, USA, she joined the Weizmann Institute. In 1985 she initiated studies aiming at understanding the molecular mechanisms underlying Gaucher disease. In 1990 she moved to Tel Aviv University where she have continued her studies on the molecular mechanisms underlying Gaucher disease and lately on the association between Gaucher disease and Parkinson disease and misfolding in lysosomal diseases, using Drosophila as an animal model.
Leiden University, Netherlands
Professor Hans Aerts chairs the Department of Medical Biochemistry at Leiden University. Earlier he chaired the Department of Biochemistry at the Academic Medical Center in Amsterdam (2000-2014). His research focuses on glycosphingolipids in health and disease with special attention for inherited lysosomal storage disorders like Gaucher disease, as well as neurodegeneration and the Metabolic Syndrome.
Trained in biochemistry at the University of Amsterdam (Prof. Joseph Tager) and the National Institutes of Health in Bethesda, USA, he completed his PhD thesis Biochemical studies on glucocerebrosidase in relation to Gaucher disease with honours in 1988. He was involved in the first application of enzyme replacement therapy and substrate reduction therapy of type 1 Gaucher disease in Europe as well as the discovery of now widely used biomarkers. He has been (co)promotor of 44 completed PhD thesis works and published over 400 peer-reviewed papers (H-index: 94, Google Scholar).
Professor Aerts is recipient of various governmental research grants, including the ERC Advanced Research Grant ‘Chemical Biology of Sphingolipids and the NWO Building Blocks of Life Grant ‘Glucosylceramide’. He is co-founder and honorary president of the European Working Group on Gaucher Disease (EWGGD), a society comprising all major Gaucher clinical and research centres and national patient societies worldwide..
University of Bonn, Germany
Volkmar Gieselmann studied Medicine in Frankfurt and Münster. After his graduation he was a postdoc at the Institute of Biochemistry at the University of Münster where he joined the group of Kurt von Figura. Subsequently he worked as an MD in the Department of Hematology and Oncology of the University of Münster. After a post doc at the Harvard Medical School Department of Genetics joined again the group of Kurt von Figura now at the University of Göttingen. In 1992 he received a Heisenberg-fellowship and an endowed professorship of the Herman and Lilly Schilling foundation. In 1994 he was appointed Professor of Biochemistry at the University of Kiel and since 1999 he is full professor of biochemistry at the University of Bonn. In 2008 he received the Rare Disease Research award of the Eva-Luise and Horst Köhler foundation. He has a long-standing interest in lysosomal storage disorders, in particular in metachromatic leukodystrophy. He has cloned the defective gene in this disease and developed the respective animal models in which he performed a number of preclinical studies. He has been a member of the Board of Directors of the University of Bonn from 2009-2015 and for 8 years Chairman of the European Study Group on Lysosomal Diseases (ESGLD) until 2015.
University of Hamburg, Department of Paediatrics, Germany
Angela Schulz has been Head of the Research Group for Childhood Neurodegenerative Disease at the University Medical Center Hamburg-Eppendorf, Germany, since 2015 and head of the Pediatric University Centre for Innovative Therapies (ped.UCiT) in Hamburg since 2021. She is coordinator of the international DEMCHILD NCL patient database.
Dr Schulz received her medical degree from the Albert-Ludwigs University of Freiburg, Freiburg im Breisgau, Germany, in 2000. After a medical internship at the University of Tampa, Florida, USA, she completed her junior (2001–2003) and senior residencies (2006–2011) at the Hamburg University Medical
Center Children’s Hospital, Hamburg, Germany. From 2003-2006, she was a post-doctoral Research Fellow at the Department of Pediatric Neurology at Duke University Medical Center, Durham, North Carolina, USA. Dr Schulz obtained boardc ertification in pediatrics and clinical specialization in pediatric palliative care medicine in 2011.
Her research interests are pediatrics, neurology and neurodegeneration, and her work has included investigation of several rare pediatric neurodegenerative diseases, especially lysosomal storage diseases such as neuronal ceroidlipofuscinosis (NCL). She is Principal Investigator of several clinical studies in the field of rare diseases,including studies on intracerebroventricular enzyme replacement therapy (ERT) in patients with NCL type 2.
Dr Schulz received a research award from the German Society for Pediatric Neurology in 2005 and has authored andco-authored many peer-reviewed publications, as well as contributing to the patent application on a method for diagnosis of NCL.
Nicole Maria Muschol
University Medical Center Hamburg-Eppendorf, Germany
PD Dr. Nicole Maria Muschol is a paediatrician and metabolic specialist. She is head of the lysosomal working group and spokeswoman of the International Center for Lysosomal Disorders (ICLD) at the University Medical Center Hamburg-Eppendorf in Germany. She is interested in basic science and clinical research in particular in MPS III and has been principal investigator or actively involved in many international clinical trials for lysosomal storage disorders.
ESGLD Chairman, University of 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.
International Scientific Committee
Andrea Ballabio – Italy
Brian Bigger – UK
Francisca Coutinho – Portugal
Simon Jones – UK
Nicole Muschol – Germany
Paul Saftig – Germany
Local Organising Committee
Brian Bigger – Manchester
Stuart Ellison – Manchester
Tereza Andreou – Manchester
Laura Booth – Manchester
Emma Holt – Manchester
Shaun Wood – Manchester
Susannah James – Manchester
The European Study Group on Lysosomal Diseases would like to thank all our sponsors for their support of the 24th ESGLD Workshop and Graduate Course.
For further information regarding 24th ESGLD Workshop and Graduate Course, 2022 Lancaster please contact:
Dr Tereza Andreou
School of Biological Sciences
Faculty of Biology, Medicine and Health
3.721 Stopford Building
The University of Manchester