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.

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.

Paul Saftig, Biochemical Institute at the University Kiel is director of the department. He is chairing a group of scientists working at projects aiming to understand the functions of lysosomes and their role in health and disease. There is a focus to decipher the (patho)physiological role of membrane components of the lysosomal compartment. Approved therapies for lysosomal storage disorders including alpha-mannosidosis were developed in the lab. New trafficking routes to the lysosomal compartment were discovered. The role of lysosomal proteins and different types of membrane-associated proteases in more common neurodegenerative disorders like Alzheimer Disease and Parkinson Disease are addional topics of interest. Dr. Saftig´s work has been presented in about 300 original publications and review articles in highly recognized scientific journals. Dr. Saftig received the highest German Alzheimer Research Award (2011) and the EU-Horizon Impact Award (2019). Dr Saftig has chaired a number of national and European research networks.

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.

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

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.

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).

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..

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.

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”.

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.

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.

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 (“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.

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.

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.