Understanding the endosomal network in neurodegeneration

Professor Scott Small, Columbia University, USA

Scott A. Small MD is the Director of the Alzheimer’s Disease Research Center at Columbia University, where he also directs the Psychosis Research Program.

Dr. Small focuses on disorders that affect the hippocampus, a brain structure targeted by Alzheimer’s disease, schizophrenia, and the normal wear & tear of the aging process. The hippocampus is a circuit comprised of a handful of microscopic regions. The overarching hypothesis motivating Dr. Small’s lab is that if hippocampal regions most vulnerable to a disorder can be pinpointed, this anatomical information can guide a search for the disorder’s root cause.

Accordingly, Dr. Small’s ‘anatomical biology’ lab has pioneered the development of MRI tools best suited to isolate vulnerable hippocampal regions. His lab has then used this information to identify mechanisms that are now thought to underlie Alzheimer’s disease, schizophrenia, and ‘cognitive aging’. Most recently, his lab has begun developing interventions for each condition. To date, the lab has completed two clinical trials for cognitive aging and one for schizophrenia, and the lab’s Alzheimer’s disease findings was the cornerstone around which a new biotechnology company, Retromer Therapeutics. was formed. 

Professor Rick Livesey, UCL/Great Ormond Street Institute of Child Health, UK

Rick Livesey is Professor of Stem Cell Biology at the UCL/Great Ormond Street Institute of Child Health. He is also head of the Genetic and Neurodevelopmental Disorders Research Unit at Biogen, and scientific founder of two biotech spinouts based in Cambridge, Talisman Therapeutics and Gen2 Neuroscience. Prior to joining UCL in 2018, he was a Senior Group Leader at the Wellcome Trust/Cancer Research UK Gurdon Institute at the University of Cambridge. His research focuses on the cell and molecular biology of neurodegenerative disease, with particular interest in genetic diseases of the cerebral cortex in children and adults and the development of novel therapeutics for those conditions.

Dr Bettina Winckler, University of Virginia Medical School, USA

Bettina Winckler was trained as a cell biologist in Dr Frank Solomon's lab at MIT where she received a PhD in 1994. She subsequently trained as a postdoc with Dr Ira Mellman and Dr Mu-ming Poo. She started her own lab in 2000 at Mount Sinai School of Medicine in New York and moved to the University of Virginia where she is Full Professor in the Department of Cell Biology. Dr Winckler has long-standing interests in how cells elaborate and maintain polarized morphologies, with a focus on neurons. Her work investigates the regulation of the endosomal pathway in dendrites in time and space. Currently, her lab is studying the transport of short-lived dendritic membrane proteins to somatic lysosomes and the regulation by Rab7 and its effectors. A second interest of the Winckler lab is the elucidation of novel signalling roles of intermediate filaments in neurons. 

Dr Jessica Young, University of Washington, USA

Jessica Young received her PhD in Molecular and Cell Biology in 2009 from the University of Washington in the laboratory of Dr Albert La Spada where she studied the role of autophagy in neurodegenerative disease. She pursued postdoctoral training with Dr Lawrence SB Goldstein at the University of California, San Diego where she focused on developing human induced pluripotent stem cell (hiPSC) models of Alzheimer’s disease. She is currently an Assistant Professor in the Department of Laboratory Medicine and Pathology at the University of Washington where, since 2016, her laboratory is working to understand the role of AD risk genes in neuronal endo-lysosomal dysfunction using patient derived and gene-edited hiPSCs. The Young lab is dedicated to building accurate in vitro models of neurodegenerative disease and understanding cell biological mechanisms the lead to disease pathogenesis. Current funded projects in the lab include 1) understanding the role of SORL1 in endo-lysosomal trafficking in hiPSC-derived neurons, microglia, and brain organoids and 2) elucidating epigenetic mechanisms that regulate neuronal metabolism and ageing. Dr Young’s research is funded by the BrightFocus Foundation and the NIH (NIA). 

Dr Olav Andersen, Aarhus University, Denmark

Olav Andersen graduated from Aarhus University in 2001, followed by 6 years as postdoctoral researcher at the Max-Delbrück-Center for molecular medicine in Berlin, before he returned to Aarhus University to become associate professor and establishing his research group focusing on SORL1 and Alzheimer’s disease.

Professor Rick Livesey, UCL/Great Ormond Street Institute of Child Health, UK

Rick Livesey is Professor of Stem Cell Biology at the UCL/Great Ormond Street Institute of Child Health. He is also head of the Genetic and Neurodevelopmental Disorders Research Unit at Biogen, and scientific founder of two biotech spinouts based in Cambridge, Talisman Therapeutics and Gen2 Neuroscience. Prior to joining UCL in 2018, he was a Senior Group Leader at the Wellcome Trust/Cancer Research UK Gurdon Institute at the University of Cambridge. His research focuses on the cell and molecular biology of neurodegenerative disease, with particular interest in genetic diseases of the cerebral cortex in children and adults and the development of novel therapeutics for those conditions.

Dr Bettina Winckler, University of Virginia Medical School, USA

Bettina Winckler was trained as a cell biologist in Dr Frank Solomon's lab at MIT where she received a PhD in 1994. She subsequently trained as a postdoc with Dr Ira Mellman and Dr Mu-ming Poo. She started her own lab in 2000 at Mount Sinai School of Medicine in New York and moved to the University of Virginia where she is Full Professor in the Department of Cell Biology. Dr Winckler has long-standing interests in how cells elaborate and maintain polarized morphologies, with a focus on neurons. Her work investigates the regulation of the endosomal pathway in dendrites in time and space. Currently, her lab is studying the transport of short-lived dendritic membrane proteins to somatic lysosomes and the regulation by Rab7 and its effectors. A second interest of the Winckler lab is the elucidation of novel signalling roles of intermediate filaments in neurons. 

Dr Olav Andersen, Aarhus University, Denmark

Olav Andersen graduated from Aarhus University in 2001, followed by 6 years as postdoctoral researcher at the Max-Delbrück-Center for molecular medicine in Berlin, before he returned to Aarhus University to become associate professor and establishing his research group focusing on SORL1 and Alzheimer’s disease.

Dr Jessica Young, University of Washington, USA

Jessica Young received her PhD in Molecular and Cell Biology in 2009 from the University of Washington in the laboratory of Dr Albert La Spada where she studied the role of autophagy in neurodegenerative disease. She pursued postdoctoral training with Dr Lawrence SB Goldstein at the University of California, San Diego where she focused on developing human induced pluripotent stem cell (hiPSC) models of Alzheimer’s disease. She is currently an Assistant Professor in the Department of Laboratory Medicine and Pathology at the University of Washington where, since 2016, her laboratory is working to understand the role of AD risk genes in neuronal endo-lysosomal dysfunction using patient derived and gene-edited hiPSCs. The Young lab is dedicated to building accurate in vitro models of neurodegenerative disease and understanding cell biological mechanisms the lead to disease pathogenesis. Current funded projects in the lab include 1) understanding the role of SORL1 in endo-lysosomal trafficking in hiPSC-derived neurons, microglia, and brain organoids and 2) elucidating epigenetic mechanisms that regulate neuronal metabolism and ageing. Dr Young’s research is funded by the BrightFocus Foundation and the NIH (NIA). 

Professor Scott Small, Columbia University, USA

Scott A. Small MD is the Director of the Alzheimer’s Disease Research Center at Columbia University, where he also directs the Psychosis Research Program.

Dr. Small focuses on disorders that affect the hippocampus, a brain structure targeted by Alzheimer’s disease, schizophrenia, and the normal wear & tear of the aging process. The hippocampus is a circuit comprised of a handful of microscopic regions. The overarching hypothesis motivating Dr. Small’s lab is that if hippocampal regions most vulnerable to a disorder can be pinpointed, this anatomical information can guide a search for the disorder’s root cause.

Accordingly, Dr. Small’s ‘anatomical biology’ lab has pioneered the development of MRI tools best suited to isolate vulnerable hippocampal regions. His lab has then used this information to identify mechanisms that are now thought to underlie Alzheimer’s disease, schizophrenia, and ‘cognitive aging’. Most recently, his lab has begun developing interventions for each condition. To date, the lab has completed two clinical trials for cognitive aging and one for schizophrenia, and the lab’s Alzheimer’s disease findings was the cornerstone around which a new biotechnology company, Retromer Therapeutics. was formed. 

Professor Rick Livesey, UCL/Great Ormond Street Institute of Child Health, UK

Rick Livesey is Professor of Stem Cell Biology at the UCL/Great Ormond Street Institute of Child Health. He is also head of the Genetic and Neurodevelopmental Disorders Research Unit at Biogen, and scientific founder of two biotech spinouts based in Cambridge, Talisman Therapeutics and Gen2 Neuroscience. Prior to joining UCL in 2018, he was a Senior Group Leader at the Wellcome Trust/Cancer Research UK Gurdon Institute at the University of Cambridge. His research focuses on the cell and molecular biology of neurodegenerative disease, with particular interest in genetic diseases of the cerebral cortex in children and adults and the development of novel therapeutics for those conditions.

Dr Bettina Winckler, University of Virginia Medical School, USA

Bettina Winckler was trained as a cell biologist in Dr Frank Solomon's lab at MIT where she received a PhD in 1994. She subsequently trained as a postdoc with Dr Ira Mellman and Dr Mu-ming Poo. She started her own lab in 2000 at Mount Sinai School of Medicine in New York and moved to the University of Virginia where she is Full Professor in the Department of Cell Biology. Dr Winckler has long-standing interests in how cells elaborate and maintain polarized morphologies, with a focus on neurons. Her work investigates the regulation of the endosomal pathway in dendrites in time and space. Currently, her lab is studying the transport of short-lived dendritic membrane proteins to somatic lysosomes and the regulation by Rab7 and its effectors. A second interest of the Winckler lab is the elucidation of novel signalling roles of intermediate filaments in neurons. 

Dr Olav Andersen, Aarhus University, Denmark

Olav Andersen graduated from Aarhus University in 2001, followed by 6 years as postdoctoral researcher at the Max-Delbrück-Center for molecular medicine in Berlin, before he returned to Aarhus University to become associate professor and establishing his research group focusing on SORL1 and Alzheimer’s disease.

Dr Jessica Young, University of Washington, USA

Jessica Young received her PhD in Molecular and Cell Biology in 2009 from the University of Washington in the laboratory of Dr Albert La Spada where she studied the role of autophagy in neurodegenerative disease. She pursued postdoctoral training with Dr Lawrence SB Goldstein at the University of California, San Diego where she focused on developing human induced pluripotent stem cell (hiPSC) models of Alzheimer’s disease. She is currently an Assistant Professor in the Department of Laboratory Medicine and Pathology at the University of Washington where, since 2016, her laboratory is working to understand the role of AD risk genes in neuronal endo-lysosomal dysfunction using patient derived and gene-edited hiPSCs. The Young lab is dedicated to building accurate in vitro models of neurodegenerative disease and understanding cell biological mechanisms the lead to disease pathogenesis. Current funded projects in the lab include 1) understanding the role of SORL1 in endo-lysosomal trafficking in hiPSC-derived neurons, microglia, and brain organoids and 2) elucidating epigenetic mechanisms that regulate neuronal metabolism and ageing. Dr Young’s research is funded by the BrightFocus Foundation and the NIH (NIA). 

Professor Scott Small, Columbia University, USA

Scott A. Small MD is the Director of the Alzheimer’s Disease Research Center at Columbia University, where he also directs the Psychosis Research Program.

Dr. Small focuses on disorders that affect the hippocampus, a brain structure targeted by Alzheimer’s disease, schizophrenia, and the normal wear & tear of the aging process. The hippocampus is a circuit comprised of a handful of microscopic regions. The overarching hypothesis motivating Dr. Small’s lab is that if hippocampal regions most vulnerable to a disorder can be pinpointed, this anatomical information can guide a search for the disorder’s root cause.

Accordingly, Dr. Small’s ‘anatomical biology’ lab has pioneered the development of MRI tools best suited to isolate vulnerable hippocampal regions. His lab has then used this information to identify mechanisms that are now thought to underlie Alzheimer’s disease, schizophrenia, and ‘cognitive aging’. Most recently, his lab has begun developing interventions for each condition. To date, the lab has completed two clinical trials for cognitive aging and one for schizophrenia, and the lab’s Alzheimer’s disease findings was the cornerstone around which a new biotechnology company, Retromer Therapeutics. was formed. 

Professor Dario Alessi FRS, University of Dundee, UK

Dario is biochemist whose  research focuses on unravelling the roles of poorly characterised components which regulate protein phosphorylation or ubiquitylation pathways linked to human disease. He has contributed to our understanding of several disease relevant signal transduction pathways including PDK1 (diabetes and cancer), LKB1 (cancer), WNKs (blood pressure). Much of Dario’s current work is focused on understanding LRRK2 and how mutations in this enzyme cause Parkinson’s disease. In 1997 Dario became a program leader in the MRC Protein Phosphorylation and Ubiquitylation Unit, where he was appointed as its Director in 2012. He also serves as the Director of the Dundee Signal Transduction Therapy Unit, that  is a collaboration between scientists at the University of Dundee and pharmaceutical companies. Dario is passionate about the role that biochemical analysis can play in opening up our understanding of human health and disease. Dario Alessi’s publications have accumulated over 9,0000 citations (h-index 145). He has obtained several awards including the Francis Crick Medal and Lecture (2006) and election to the UK Royal Society (2008). Dario obtained a BSc (1988) and PhD (1991) from the University of Birmingham and carried out postdoctoral at the University of Dundee from (1991 to 1996).

Dr Kerri Kinghorn, University College London, UK

Dr Kerri Kinghorn is a Wellcome Trust Clinical Research Career Development Fellow at the Institute of Healthy Ageing, University College London (UCL) and an Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery. She completed the MB/PhD programme at the University of Cambridge and post-doctoral research at UCL as a Wellcome Clinical Fellow. This was followed by an Academic Clinical Lecturer post in neurology at Kings College London and a Rosetrees UCL Excellence Fellowship.  

Dr Kinghorn's research group seeks to understand the underlying pathogenic mechanisms of neurodegenerative disorders using the fruit fly Drosophila melanogaster, as well as cellular models of disease. Her research is focused on unravelling the underlying mechanisms linking genes involved in endosomal-lysosomal intracellular trafficking pathways and Parkinson’s disease. Her current works seeks to understand how endo-lysosomal autophagic defects in the gut and associated changes in its microbiome influence brain pathology via gut-brain axis communication. 

Dr Mark Cookson, NIA, NIH, USA

Dr Mark R Cookson is a cell biologist whose current research interests include the effects of mutations in the genes associated with neurodegeneration at the cellular and molecular level. His laboratory efforts are directed at finding the underlying pathways that lead to Parkinson's disease and related disorders. Dr Cookson received both his BSc and PhD degrees from the University of Salford, UK in 1991 and 1995, respectively. His postdoctoral studies included time spent at the Medical Research Council laboratories and at the University of Newcastle, UK. He joined the Mayo Clinic, Jacksonville, Florida, as an Assistant Professor in 2000 and moved to the NIA in February 2002. Within the Laboratory of Neurogenetics, Dr Cookson's group works on the effects of mutations associated with Parkinson's disease on protein function.

Dr Evan Reid, Cambridge Institute of Medical Research, UK

Evan Reid graduated in Medicine from Glasgow University in 1991 then trained in Medical Genetics in Glasgow and Cambridge. He became interested in the hereditary spastic paraplegias (HSPs), which are genetic forms of motor neuron degeneration. He completed a PhD in Cambridge studying the genetics of these conditions, supervised by David Rubinsztein. After stints as a Wellcome Trust Advanced and then Senior Research Fellow, he is now Reader in Neurogenetics and Molecular Neurobiology and Principal Investigator at the Cambridge Institute for Medical Research, a research institute of the University of Cambridge that has a strategic focus on unravelling the mechanisms of rare genetic disease. He is clinically active and runs a specialised neurogenetics clinic at Addenbrooke's Hospital. His research has encompassed the clinical features, genetics and cell biology of HSPs, but concentrates on understanding the molecular pathology of HSP proteins that are involved in membrane traffic. 

Professor Erika Holzbaur, University of Pennsylvania, USA

Erika Holzbaur is the William Maul Measey Professor of Physiology at the University of Pennsylvania Perelman School of Medicine. She received her BS in Chemistry and History from the College of William and Mary, her PhD in Biochemistry from Penn State, and performed her postdoctoral studies at the Worcester Foundation for Experimental Biology. Dr Holzbaur was recruited to Penn in 1992 and now holds an endowed chair. The Holzbaur lab studies the dynamics of organelle motility along the cellular cytoskeleton, required to drive the active transport of organelles along the axons and dendrites of neurons. The lab also investigates cellular mechanisms leading to neurodegeneration focusing on autophagy and mitophagy, pathways critical to maintain neuronal homeostasis. Dr Holzbaur was appointed a Porter Fellow and has received the NINDS Javits Award, the Stanley N. Cohen Biomedical Research Award, and is an inaugural Lifetime Fellow of the American Society for Cell Biology.  

Professor Dario Alessi FRS, University of Dundee, UK

Dario is biochemist whose  research focuses on unravelling the roles of poorly characterised components which regulate protein phosphorylation or ubiquitylation pathways linked to human disease. He has contributed to our understanding of several disease relevant signal transduction pathways including PDK1 (diabetes and cancer), LKB1 (cancer), WNKs (blood pressure). Much of Dario’s current work is focused on understanding LRRK2 and how mutations in this enzyme cause Parkinson’s disease. In 1997 Dario became a program leader in the MRC Protein Phosphorylation and Ubiquitylation Unit, where he was appointed as its Director in 2012. He also serves as the Director of the Dundee Signal Transduction Therapy Unit, that  is a collaboration between scientists at the University of Dundee and pharmaceutical companies. Dario is passionate about the role that biochemical analysis can play in opening up our understanding of human health and disease. Dario Alessi’s publications have accumulated over 9,0000 citations (h-index 145). He has obtained several awards including the Francis Crick Medal and Lecture (2006) and election to the UK Royal Society (2008). Dario obtained a BSc (1988) and PhD (1991) from the University of Birmingham and carried out postdoctoral at the University of Dundee from (1991 to 1996).

Dr Kerri Kinghorn, University College London, UK

Dr Kerri Kinghorn is a Wellcome Trust Clinical Research Career Development Fellow at the Institute of Healthy Ageing, University College London (UCL) and an Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery. She completed the MB/PhD programme at the University of Cambridge and post-doctoral research at UCL as a Wellcome Clinical Fellow. This was followed by an Academic Clinical Lecturer post in neurology at Kings College London and a Rosetrees UCL Excellence Fellowship.  

Dr Kinghorn's research group seeks to understand the underlying pathogenic mechanisms of neurodegenerative disorders using the fruit fly Drosophila melanogaster, as well as cellular models of disease. Her research is focused on unravelling the underlying mechanisms linking genes involved in endosomal-lysosomal intracellular trafficking pathways and Parkinson’s disease. Her current works seeks to understand how endo-lysosomal autophagic defects in the gut and associated changes in its microbiome influence brain pathology via gut-brain axis communication. 

Dr Evan Reid, Cambridge Institute of Medical Research, UK

Evan Reid graduated in Medicine from Glasgow University in 1991 then trained in Medical Genetics in Glasgow and Cambridge. He became interested in the hereditary spastic paraplegias (HSPs), which are genetic forms of motor neuron degeneration. He completed a PhD in Cambridge studying the genetics of these conditions, supervised by David Rubinsztein. After stints as a Wellcome Trust Advanced and then Senior Research Fellow, he is now Reader in Neurogenetics and Molecular Neurobiology and Principal Investigator at the Cambridge Institute for Medical Research, a research institute of the University of Cambridge that has a strategic focus on unravelling the mechanisms of rare genetic disease. He is clinically active and runs a specialised neurogenetics clinic at Addenbrooke's Hospital. His research has encompassed the clinical features, genetics and cell biology of HSPs, but concentrates on understanding the molecular pathology of HSP proteins that are involved in membrane traffic. 

Dr Mark Cookson, NIA, NIH, USA

Dr Mark R Cookson is a cell biologist whose current research interests include the effects of mutations in the genes associated with neurodegeneration at the cellular and molecular level. His laboratory efforts are directed at finding the underlying pathways that lead to Parkinson's disease and related disorders. Dr Cookson received both his BSc and PhD degrees from the University of Salford, UK in 1991 and 1995, respectively. His postdoctoral studies included time spent at the Medical Research Council laboratories and at the University of Newcastle, UK. He joined the Mayo Clinic, Jacksonville, Florida, as an Assistant Professor in 2000 and moved to the NIA in February 2002. Within the Laboratory of Neurogenetics, Dr Cookson's group works on the effects of mutations associated with Parkinson's disease on protein function.

Professor Erika Holzbaur, University of Pennsylvania, USA

Erika Holzbaur is the William Maul Measey Professor of Physiology at the University of Pennsylvania Perelman School of Medicine. She received her BS in Chemistry and History from the College of William and Mary, her PhD in Biochemistry from Penn State, and performed her postdoctoral studies at the Worcester Foundation for Experimental Biology. Dr Holzbaur was recruited to Penn in 1992 and now holds an endowed chair. The Holzbaur lab studies the dynamics of organelle motility along the cellular cytoskeleton, required to drive the active transport of organelles along the axons and dendrites of neurons. The lab also investigates cellular mechanisms leading to neurodegeneration focusing on autophagy and mitophagy, pathways critical to maintain neuronal homeostasis. Dr Holzbaur was appointed a Porter Fellow and has received the NINDS Javits Award, the Stanley N. Cohen Biomedical Research Award, and is an inaugural Lifetime Fellow of the American Society for Cell Biology.  

Professor Dario Alessi FRS, University of Dundee, UK

Dario is biochemist whose  research focuses on unravelling the roles of poorly characterised components which regulate protein phosphorylation or ubiquitylation pathways linked to human disease. He has contributed to our understanding of several disease relevant signal transduction pathways including PDK1 (diabetes and cancer), LKB1 (cancer), WNKs (blood pressure). Much of Dario’s current work is focused on understanding LRRK2 and how mutations in this enzyme cause Parkinson’s disease. In 1997 Dario became a program leader in the MRC Protein Phosphorylation and Ubiquitylation Unit, where he was appointed as its Director in 2012. He also serves as the Director of the Dundee Signal Transduction Therapy Unit, that  is a collaboration between scientists at the University of Dundee and pharmaceutical companies. Dario is passionate about the role that biochemical analysis can play in opening up our understanding of human health and disease. Dario Alessi’s publications have accumulated over 9,0000 citations (h-index 145). He has obtained several awards including the Francis Crick Medal and Lecture (2006) and election to the UK Royal Society (2008). Dario obtained a BSc (1988) and PhD (1991) from the University of Birmingham and carried out postdoctoral at the University of Dundee from (1991 to 1996).

Dr Kerri Kinghorn, University College London, UK

Dr Kerri Kinghorn is a Wellcome Trust Clinical Research Career Development Fellow at the Institute of Healthy Ageing, University College London (UCL) and an Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery. She completed the MB/PhD programme at the University of Cambridge and post-doctoral research at UCL as a Wellcome Clinical Fellow. This was followed by an Academic Clinical Lecturer post in neurology at Kings College London and a Rosetrees UCL Excellence Fellowship.  

Dr Kinghorn's research group seeks to understand the underlying pathogenic mechanisms of neurodegenerative disorders using the fruit fly Drosophila melanogaster, as well as cellular models of disease. Her research is focused on unravelling the underlying mechanisms linking genes involved in endosomal-lysosomal intracellular trafficking pathways and Parkinson’s disease. Her current works seeks to understand how endo-lysosomal autophagic defects in the gut and associated changes in its microbiome influence brain pathology via gut-brain axis communication. 

Dr Evan Reid, Cambridge Institute of Medical Research, UK

Evan Reid graduated in Medicine from Glasgow University in 1991 then trained in Medical Genetics in Glasgow and Cambridge. He became interested in the hereditary spastic paraplegias (HSPs), which are genetic forms of motor neuron degeneration. He completed a PhD in Cambridge studying the genetics of these conditions, supervised by David Rubinsztein. After stints as a Wellcome Trust Advanced and then Senior Research Fellow, he is now Reader in Neurogenetics and Molecular Neurobiology and Principal Investigator at the Cambridge Institute for Medical Research, a research institute of the University of Cambridge that has a strategic focus on unravelling the mechanisms of rare genetic disease. He is clinically active and runs a specialised neurogenetics clinic at Addenbrooke's Hospital. His research has encompassed the clinical features, genetics and cell biology of HSPs, but concentrates on understanding the molecular pathology of HSP proteins that are involved in membrane traffic. 

Dr Mark Cookson, NIA, NIH, USA

Dr Mark R Cookson is a cell biologist whose current research interests include the effects of mutations in the genes associated with neurodegeneration at the cellular and molecular level. His laboratory efforts are directed at finding the underlying pathways that lead to Parkinson's disease and related disorders. Dr Cookson received both his BSc and PhD degrees from the University of Salford, UK in 1991 and 1995, respectively. His postdoctoral studies included time spent at the Medical Research Council laboratories and at the University of Newcastle, UK. He joined the Mayo Clinic, Jacksonville, Florida, as an Assistant Professor in 2000 and moved to the NIA in February 2002. Within the Laboratory of Neurogenetics, Dr Cookson's group works on the effects of mutations associated with Parkinson's disease on protein function.

Professor Erika Holzbaur, University of Pennsylvania, USA

Erika Holzbaur is the William Maul Measey Professor of Physiology at the University of Pennsylvania Perelman School of Medicine. She received her BS in Chemistry and History from the College of William and Mary, her PhD in Biochemistry from Penn State, and performed her postdoctoral studies at the Worcester Foundation for Experimental Biology. Dr Holzbaur was recruited to Penn in 1992 and now holds an endowed chair. The Holzbaur lab studies the dynamics of organelle motility along the cellular cytoskeleton, required to drive the active transport of organelles along the axons and dendrites of neurons. The lab also investigates cellular mechanisms leading to neurodegeneration focusing on autophagy and mitophagy, pathways critical to maintain neuronal homeostasis. Dr Holzbaur was appointed a Porter Fellow and has received the NINDS Javits Award, the Stanley N. Cohen Biomedical Research Award, and is an inaugural Lifetime Fellow of the American Society for Cell Biology.  

Dr Henne Holstege, Clinical Genetics and Alzheimer Center Amsterdam UMC, The Netherlands

Henne Holstege is an Associate Professor at the Amsterdam University Medical Center. After she majored in biochemistry at the University of Leiden she did her PhD at the Netherlands Cancer Institute. During this time Dr Holstege was intrigued by the extraordinary case of a Dutch woman who died at age 115 without any symptoms of cognitive decline because this woman proved that cognitive decline is not inevitable. Holstege set up the 100-plus Study, a cohort study of cognitively healthy centenarians to identify protective genetic and biomolecular factors that associate with the escape of cognitive decline. She analyses the data from the centenarians in context of the genetics and biomolecular factors of (early onset) Alzheimer’s Disease; both extremes on the same cognitive spectrum. Therefore, her lab is involved in large international collaborative joint analysis of sequencing data thousands of Alzheimer Disease cases and cognitively healthy controls the collected by European ADES and American ADSP consortia. Holstege and collaborators are currently identifying novel genes associated with the increased or decreased risk of AD. Here, she applies specific focus on the identification of rare pathogenic variants in the SORL1 gene, which next to APOE-e4 allele, is the most common and strongest risk factor of AD. One of her major goals is, therefore, is to implement adequate clinical counselling strategies of SORL1 variant to the carriers and their family members. For this reason, a part of her lab is embedded in the clinic, and involved in counseling genetically predisposed Alzheimer Disease patients. For her work, Holstege was awarded the Alzheimer Research Prize by the Hans und Ilse Breuer Foundation in 2020. For more information see: www.holstegelab.eu.

Professor Peter St George-Hyslop FRS, Cambridge Institute for Medical Research, UK and University of Toronto, Canada

Peter St George-Hyslop FRS is a medical scientist, neurologist and molecular geneticist who is distinguished for his research into neurodegenerative disorders, including Alzheimer’s disease (AD). In particular, he discovered several genes that when mutated lead to early onset hereditary AD, accelerating our understanding the disease and the development of potential treatments.

His discovery that defective genes encoding presenilins are a cause of familial AD led to presenilins becoming a new target for treatments. He went on to show that mutated presenilins contribute to the generation of the amyloid beta protein — deposition of which is the earliest sign of AD in those carrying such genes. His work on several other neurodegeneration-related genes and proteins (including SORLA, TREM2, FUS and ANXA11) has led to an understanding of the role of vesicular transport, inflammation and perturbed RNA granule biology.

Peter has led an AD research programme as Professor of Experimental Neuroscience at the University of Cambridge since 2007. He was awarded the Howard Hughes Medical Institute International Scholar Award in both 1997 and 2002, and has received several other notable awards.

Dr Justin Ichida, University of Southern California, USA

Justin K Ichida is an Associate Professor of Stem Cell Biology and Regenerative Medicine at the Keck School of Medicine of USC. Prior to joining USC, Dr Ichida earned his PhD at Harvard Medical School studying the origins of life with Jack Szostak and did postdoctoral work on cellular reprogramming with Kevin Eggan at Harvard University.

Dr Ichida conducts research on the etiology, pathogenesis, genetics, and treatment of neurodegenerative diseases, with a focus on amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. His work has garnered many awards, including a Pathway to Independence Award from the National Institutes of Health, the New York Stem Cell Foundation Innovator Award, the Richard N. Merkin Scholar Award, and the Donald and Delia Baxter Foundation Faculty Scholar Award. In December 2017, Ichida received the Champion for a Cure Award from the ALS Association, the highest honor the ALS Association bestows on scientists for distinguished intellectual achievements. 

Since starting at USC in 2013, Dr Ichida has secured more than $15 million in external funding for research on ALS, frontotemporal dementia, Alzheimer’s disease, and other disorders of the nervous system. Ichida has published 68 scientific papers in the scientific literature and has co-founded a Los Angeles-based biotech company to translate findings from his lab to the clinic. 

Professor Pierfausto Seneci, University of Milan, Italy

Pierfausto Seneci received his degree in Chemistry in Pavia, followed by a postdoc at Politecnico (Milan). From 1986 he worked at Pierrel (Milan) on heterocyclic NSAIDs; at Marion Merrell Dow, on semisynthetic modification of natural antibacterials (Gerenzano), and on neuroprotective agents (Strasbourg); at Selectide (Tucson, USA) on combinatorial libraries of natural product-like structures; at SmithKlineBeecham (Rennes) as Lab Head of Chemistry, working in oncology and osteoporosis; and at GlaxoWellcome (Verona) as Director of Lead Discovery, leading the optimization of antibacterial and CNS agents. In 2000 he was a co-founder and CSO of NADAG (Munich), working on disease-modifying agents to cure AD.

In 2003 he became Associate Professor at the University of Milan, where he teaches basic and advanced courses. His medicinal chemistry interests are in oncology (pro-apoptotics, natural product derivatives, immuno-oncology) and in neurodegeneration (disease-modifyers against AD, PD and ALS). He authored more than 120 papers, 15 patents and 4 books.

Dr Luca Muzio, San Raffaele Scientific Institute, Italy

Luca Muzio received his degree in Biology in Genoa. He is a senior scientist at the Institute of Experimental Neurology (INSpe) of San Raffaele Scientific Institute, Italy. He is a trained biologist that completed his PhD in 2005, working in the field of developmental biology. It is in that context that he investigated transcription factors and molecular mechanisms involved in cortical development. In 2006, he joined the INSpe and he has made research contributions in the field of neuroimmunology. He carried out different types of experiments and researches on animal models of multiple sclerosis (MS). More recently, he started to investigate neurodegeneration in Amyotrophic Lateral Sclerosis (ALS). He did researches focused on microglia activation in ALS models and recently he started to investigate the retromer molecular pathway. Starting from 2015, he teaches at the University Vita Salute of Milan. 

Professor Peter St George-Hyslop FRS, Cambridge Institute for Medical Research, UK and University of Toronto, Canada

Peter St George-Hyslop FRS is a medical scientist, neurologist and molecular geneticist who is distinguished for his research into neurodegenerative disorders, including Alzheimer’s disease (AD). In particular, he discovered several genes that when mutated lead to early onset hereditary AD, accelerating our understanding the disease and the development of potential treatments.

His discovery that defective genes encoding presenilins are a cause of familial AD led to presenilins becoming a new target for treatments. He went on to show that mutated presenilins contribute to the generation of the amyloid beta protein — deposition of which is the earliest sign of AD in those carrying such genes. His work on several other neurodegeneration-related genes and proteins (including SORLA, TREM2, FUS and ANXA11) has led to an understanding of the role of vesicular transport, inflammation and perturbed RNA granule biology.

Peter has led an AD research programme as Professor of Experimental Neuroscience at the University of Cambridge since 2007. He was awarded the Howard Hughes Medical Institute International Scholar Award in both 1997 and 2002, and has received several other notable awards.

Dr Justin Ichida, University of Southern California, USA

Justin K Ichida is an Associate Professor of Stem Cell Biology and Regenerative Medicine at the Keck School of Medicine of USC. Prior to joining USC, Dr Ichida earned his PhD at Harvard Medical School studying the origins of life with Jack Szostak and did postdoctoral work on cellular reprogramming with Kevin Eggan at Harvard University.

Dr Ichida conducts research on the etiology, pathogenesis, genetics, and treatment of neurodegenerative diseases, with a focus on amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. His work has garnered many awards, including a Pathway to Independence Award from the National Institutes of Health, the New York Stem Cell Foundation Innovator Award, the Richard N. Merkin Scholar Award, and the Donald and Delia Baxter Foundation Faculty Scholar Award. In December 2017, Ichida received the Champion for a Cure Award from the ALS Association, the highest honor the ALS Association bestows on scientists for distinguished intellectual achievements. 

Since starting at USC in 2013, Dr Ichida has secured more than $15 million in external funding for research on ALS, frontotemporal dementia, Alzheimer’s disease, and other disorders of the nervous system. Ichida has published 68 scientific papers in the scientific literature and has co-founded a Los Angeles-based biotech company to translate findings from his lab to the clinic. 

Professor Pierfausto Seneci, University of Milan, Italy

Pierfausto Seneci received his degree in Chemistry in Pavia, followed by a postdoc at Politecnico (Milan). From 1986 he worked at Pierrel (Milan) on heterocyclic NSAIDs; at Marion Merrell Dow, on semisynthetic modification of natural antibacterials (Gerenzano), and on neuroprotective agents (Strasbourg); at Selectide (Tucson, USA) on combinatorial libraries of natural product-like structures; at SmithKlineBeecham (Rennes) as Lab Head of Chemistry, working in oncology and osteoporosis; and at GlaxoWellcome (Verona) as Director of Lead Discovery, leading the optimization of antibacterial and CNS agents. In 2000 he was a co-founder and CSO of NADAG (Munich), working on disease-modifying agents to cure AD.

In 2003 he became Associate Professor at the University of Milan, where he teaches basic and advanced courses. His medicinal chemistry interests are in oncology (pro-apoptotics, natural product derivatives, immuno-oncology) and in neurodegeneration (disease-modifyers against AD, PD and ALS). He authored more than 120 papers, 15 patents and 4 books.

Dr Luca Muzio, San Raffaele Scientific Institute, Italy

Luca Muzio received his degree in Biology in Genoa. He is a senior scientist at the Institute of Experimental Neurology (INSpe) of San Raffaele Scientific Institute, Italy. He is a trained biologist that completed his PhD in 2005, working in the field of developmental biology. It is in that context that he investigated transcription factors and molecular mechanisms involved in cortical development. In 2006, he joined the INSpe and he has made research contributions in the field of neuroimmunology. He carried out different types of experiments and researches on animal models of multiple sclerosis (MS). More recently, he started to investigate neurodegeneration in Amyotrophic Lateral Sclerosis (ALS). He did researches focused on microglia activation in ALS models and recently he started to investigate the retromer molecular pathway. Starting from 2015, he teaches at the University Vita Salute of Milan. 

Dr Henne Holstege, Clinical Genetics and Alzheimer Center Amsterdam UMC, The Netherlands

Henne Holstege is an Associate Professor at the Amsterdam University Medical Center. After she majored in biochemistry at the University of Leiden she did her PhD at the Netherlands Cancer Institute. During this time Dr Holstege was intrigued by the extraordinary case of a Dutch woman who died at age 115 without any symptoms of cognitive decline because this woman proved that cognitive decline is not inevitable. Holstege set up the 100-plus Study, a cohort study of cognitively healthy centenarians to identify protective genetic and biomolecular factors that associate with the escape of cognitive decline. She analyses the data from the centenarians in context of the genetics and biomolecular factors of (early onset) Alzheimer’s Disease; both extremes on the same cognitive spectrum. Therefore, her lab is involved in large international collaborative joint analysis of sequencing data thousands of Alzheimer Disease cases and cognitively healthy controls the collected by European ADES and American ADSP consortia. Holstege and collaborators are currently identifying novel genes associated with the increased or decreased risk of AD. Here, she applies specific focus on the identification of rare pathogenic variants in the SORL1 gene, which next to APOE-e4 allele, is the most common and strongest risk factor of AD. One of her major goals is, therefore, is to implement adequate clinical counselling strategies of SORL1 variant to the carriers and their family members. For this reason, a part of her lab is embedded in the clinic, and involved in counseling genetically predisposed Alzheimer Disease patients. For her work, Holstege was awarded the Alzheimer Research Prize by the Hans und Ilse Breuer Foundation in 2020. For more information see: www.holstegelab.eu.

Professor Peter St George-Hyslop FRS, Cambridge Institute for Medical Research, UK and University of Toronto, Canada

Peter St George-Hyslop FRS is a medical scientist, neurologist and molecular geneticist who is distinguished for his research into neurodegenerative disorders, including Alzheimer’s disease (AD). In particular, he discovered several genes that when mutated lead to early onset hereditary AD, accelerating our understanding the disease and the development of potential treatments.

His discovery that defective genes encoding presenilins are a cause of familial AD led to presenilins becoming a new target for treatments. He went on to show that mutated presenilins contribute to the generation of the amyloid beta protein — deposition of which is the earliest sign of AD in those carrying such genes. His work on several other neurodegeneration-related genes and proteins (including SORLA, TREM2, FUS and ANXA11) has led to an understanding of the role of vesicular transport, inflammation and perturbed RNA granule biology.

Peter has led an AD research programme as Professor of Experimental Neuroscience at the University of Cambridge since 2007. He was awarded the Howard Hughes Medical Institute International Scholar Award in both 1997 and 2002, and has received several other notable awards.

Dr Justin Ichida, University of Southern California, USA

Justin K Ichida is an Associate Professor of Stem Cell Biology and Regenerative Medicine at the Keck School of Medicine of USC. Prior to joining USC, Dr Ichida earned his PhD at Harvard Medical School studying the origins of life with Jack Szostak and did postdoctoral work on cellular reprogramming with Kevin Eggan at Harvard University.

Dr Ichida conducts research on the etiology, pathogenesis, genetics, and treatment of neurodegenerative diseases, with a focus on amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. His work has garnered many awards, including a Pathway to Independence Award from the National Institutes of Health, the New York Stem Cell Foundation Innovator Award, the Richard N. Merkin Scholar Award, and the Donald and Delia Baxter Foundation Faculty Scholar Award. In December 2017, Ichida received the Champion for a Cure Award from the ALS Association, the highest honor the ALS Association bestows on scientists for distinguished intellectual achievements. 

Since starting at USC in 2013, Dr Ichida has secured more than $15 million in external funding for research on ALS, frontotemporal dementia, Alzheimer’s disease, and other disorders of the nervous system. Ichida has published 68 scientific papers in the scientific literature and has co-founded a Los Angeles-based biotech company to translate findings from his lab to the clinic. 

Professor Pierfausto Seneci, University of Milan, Italy

Pierfausto Seneci received his degree in Chemistry in Pavia, followed by a postdoc at Politecnico (Milan). From 1986 he worked at Pierrel (Milan) on heterocyclic NSAIDs; at Marion Merrell Dow, on semisynthetic modification of natural antibacterials (Gerenzano), and on neuroprotective agents (Strasbourg); at Selectide (Tucson, USA) on combinatorial libraries of natural product-like structures; at SmithKlineBeecham (Rennes) as Lab Head of Chemistry, working in oncology and osteoporosis; and at GlaxoWellcome (Verona) as Director of Lead Discovery, leading the optimization of antibacterial and CNS agents. In 2000 he was a co-founder and CSO of NADAG (Munich), working on disease-modifying agents to cure AD.

In 2003 he became Associate Professor at the University of Milan, where he teaches basic and advanced courses. His medicinal chemistry interests are in oncology (pro-apoptotics, natural product derivatives, immuno-oncology) and in neurodegeneration (disease-modifyers against AD, PD and ALS). He authored more than 120 papers, 15 patents and 4 books.

Dr Luca Muzio, San Raffaele Scientific Institute, Italy

Luca Muzio received his degree in Biology in Genoa. He is a senior scientist at the Institute of Experimental Neurology (INSpe) of San Raffaele Scientific Institute, Italy. He is a trained biologist that completed his PhD in 2005, working in the field of developmental biology. It is in that context that he investigated transcription factors and molecular mechanisms involved in cortical development. In 2006, he joined the INSpe and he has made research contributions in the field of neuroimmunology. He carried out different types of experiments and researches on animal models of multiple sclerosis (MS). More recently, he started to investigate neurodegeneration in Amyotrophic Lateral Sclerosis (ALS). He did researches focused on microglia activation in ALS models and recently he started to investigate the retromer molecular pathway. Starting from 2015, he teaches at the University Vita Salute of Milan. 

Dr Henne Holstege, Clinical Genetics and Alzheimer Center Amsterdam UMC, The Netherlands

Henne Holstege is an Associate Professor at the Amsterdam University Medical Center. After she majored in biochemistry at the University of Leiden she did her PhD at the Netherlands Cancer Institute. During this time Dr Holstege was intrigued by the extraordinary case of a Dutch woman who died at age 115 without any symptoms of cognitive decline because this woman proved that cognitive decline is not inevitable. Holstege set up the 100-plus Study, a cohort study of cognitively healthy centenarians to identify protective genetic and biomolecular factors that associate with the escape of cognitive decline. She analyses the data from the centenarians in context of the genetics and biomolecular factors of (early onset) Alzheimer’s Disease; both extremes on the same cognitive spectrum. Therefore, her lab is involved in large international collaborative joint analysis of sequencing data thousands of Alzheimer Disease cases and cognitively healthy controls the collected by European ADES and American ADSP consortia. Holstege and collaborators are currently identifying novel genes associated with the increased or decreased risk of AD. Here, she applies specific focus on the identification of rare pathogenic variants in the SORL1 gene, which next to APOE-e4 allele, is the most common and strongest risk factor of AD. One of her major goals is, therefore, is to implement adequate clinical counselling strategies of SORL1 variant to the carriers and their family members. For this reason, a part of her lab is embedded in the clinic, and involved in counseling genetically predisposed Alzheimer Disease patients. For her work, Holstege was awarded the Alzheimer Research Prize by the Hans und Ilse Breuer Foundation in 2020. For more information see: www.holstegelab.eu.