PIA Executive Committee:
Down Syndrome and Alzheimer's Disease
Chair: Huntington Potter, PhD
Dr. Potter is Professor of Neurology. Member of the Linda Crnic Center for Down Syndrome, and Director of the Rocky Mountain Alzheimer’s Disease Center at the University of Colorado Anschutz Medical Center. Previously, Dr. Potter studied, researched and taught for 30 years at Harvard University. He then designed and directed the Florida Alzheimer’s Disease Research Center and the Johnnie B. Byrd Sr. Alzheimer’s Center & Research Institute. Dr. Potter is credited with the first demonstration of the Holliday intermediate in genetic recombination, the perfection of electroporation for gene transfer, and the co-discovery of the essential role of inflammation and the amyloid-promoting activity of the apoE-4 protein in Alzheimer's disease. He also discovered that Alzheimer's disease and Down syndrome, which invariably leads to Alzheimer's by age 30-40, are mechanistically related to each other and to cancer through the development of cells with abnormal numbers of chromosomes. Recently, he and his colleagues have found such cell cycle defects in numerous other neurodegenerative diseases, providing a novel approach to diagnosis and therapy. They are also developing several new treatments for Alzheimer’s disease for testing first in animals and soon in humans. One, GM-CSF/Leukine, is currently in clinical trials. Dr. Potter is author of over 100 scientific articles, books and patents, has received numerous awards for his work, and is a Fellow of the American Association for the Advancement of Science and the National Academy of Inventors. His electron micrographs of DNA are on permanent exhibit in the National American History Museum of the Smithsonian Institute in Washington D.C.
Programs Chair: Juan Fortea, MD, PhD
Dr. Fortea is a Faculty Neurologist at and member of the Memory Disorders Unit and Director of the Alzheimer disease and Down Syndrome Unit at the St Pau Hospital and Catalan Foundation for Down Syndrome in Barcelona. Dr. Fortea has extensive experience in clinical practice and in medical research, whose focus is the early diagnosis of neurodegenerative diseases, particularly Alzheimer’s disease as well as its development in Down syndrome. His expertise is recognized internationally, as an elected member of the Scientific Review Branch (NIH, USA), the International Scientific Committee of the Jerome Lejeune Foundation (France) as well as being an active participant of the Clinical Research Committee from the Trisomy 21 Research Society and the Down Syndrome Professional Interest Area (Alzheimer’s Association, USA). Dr. Fortea’s PhD specialization was the study of pre-clinical Alzheimer disease in sporadic and familial cohorts through the use of multimodal MRI and CSF studies. He received training from leading scientific figures such as Dr. Mony de Leon and Dr. Bruce Miller. He has been recognized with several awards including the Best Young Neurologist in Dementia by the Spanish Neurological Society (2012), the Best Young Clinical Investigator by the CIBERNED (2015) and the Neuron BioPharma Prize for the best doctoral thesis in Neurosciences. Today, he is the principal investigator of multiple research projects in the field of Alzheimer’s disease and Down syndrome, and he leads the Neuroimaging Laboratory within the St Pau Memory Unit. One of his most significant contributions is the creation and implementation of a health plan for the screening of Alzheimer’s disease in adults with Down syndrome that includes longitudinal assessments and a comprehensive biomarker research program. This cohort is one of the largest in the world with multimodal biomarker assessment, including MRI and PET imaging, plasma and CSF as well as polysomnography tests. Dr. Fortea’s group also follows other clinical cohorts (e.g. Alzheimer’s disease, mild cognitive impairment, cerebral amyloid angiopathy and other dementias). Dr. Fortea collaborates with various researchers in Europe and overseas (USA, Canada) and is well financed by prestigious granting agencies. He has co-authored more than 100 peer reviewed articles and 126 presentations to scientific colloquia, and has also trained numerous students (total of 3 Thesis co-directions and 6 more active).
Communications Chair: Florencia Iulita, PhD
Florencia Iulita is a Senior Postdoctoral Fellow with multidisciplinary training in Neuroscience, Pharmacology and Molecular Genetics. She completed her PhD and first postdoctoral training in Canada at McGill University under the mentorship of Dr. A Claudio Cuello and further pursued postdoctoral work in cerebrovascular physiology with Dr. Hélène Girouard at Université de Montréal. She has over 9 years of experience specializing in the cognitive and neuropathological aspects of Alzheimer’s disease and Down syndrome. She has been an active member of the DS-AD-PIA since 2013, and has held the role of Secretary in 2016. Her work in Down syndrome has received multiple recognitions, including the Annette Karmiloff-Smith Award for Outstanding PhD Thesis awarded by the Trisomy 21 Research Society and a Prize of Excellence in Research from the Quebec Network for Research on Aging and the Fonds de recherche du Québec-Santé. Florencia participates in several science dissemination activities, including the role of Scientific Affairs Advisor with the Women’s Brain Project, a non-profit organization advocating for gender and sex determinants of female vulnerability to brain and mental diseases.
Secretary: Bradley Christian, PhD
Dr. Christian is a Professor of Medical Physics and Psychiatry at the University of Wisconsin-Madison. He is also the Associate Director of the Waisman Center Intellectual and Developmental Disability Research Center (IDDRC), Co-director of the Brain Imaging Lab and Director of the PET Core for the UW ADRC. His research focuses on the development of neuroimaging and PET molecular imaging methodologies for understanding biochemical pathways in neurodevelopment and neurodegenerative disorders of the brain. He is currently Co-PI of a multicenter study that is investigating the progression of Alzheimer’s disease related biomarkers in adults with Down syndrome.
Treasurer Elect/Council Member: Michael Rafii, MD, PhD
Dr. Rafii is Associate Professor of Clinical Neurology at Keck School of Medicine of University of Southern California (USC) and Clinical Director at the Alzheimer’s Therapeutic Research Institute (ATRI) and the NIH-Funded Alzheimer’s Clinical Trials Consortium (ACTC). His research focuses on the design and conduct of multi-center clinical trials for Alzheimer's disease, including a genetic form of AD that occurs in Down syndrome. He has been involved in the coordination of clinical trials, spanning phase I-III, for over 10 years. He is principal investigator of the Down Syndrome Biomarker Initiative (DSBI) and serves on the steering committee for the Alzheimer's Biomarker Consortium - Down Syndrome (ABC-DS). Dr. Rafii is co-editor of the textbook 'Common Pathogenic Mechanisms between Down Syndrome and Alzheimer's Disease: Steps toward Therapy.' He is also co-author of the National Task Group’s consensus guidelines on the evaluation and management of dementia in Down syndrome. He is a scientific reviewer for the National Institutes of Health and the Alzheimer's Association and recipient of the 2016 LuMind Down Syndrome Foundation’s David Cox Award.
Council Member: Brianne Bettcher, PhD
Dr. Bettcher is an Assistant Professor and neuropsychologist at the University of Colorado Anschutz Medical Campus, and she directs neuropsychology research at the Rocky Mountain Alzheimer’s Disease Center. She obtained a PhD from Temple University in Clinical Psychology with a specialization in Neuroscience, and she completed her fellowship at the University of California San Francisco’s Memory and Aging Center. The goal of Dr. Bettcher’s research program is to elucidate modifiable, immune-mediated factors that will inform early treatments for cognitive decline for a wide range of neurodegenerative diseases. Her laboratory utilizes plasma-based and CSF-based multiplex arrays of chemokines, growth factors, and cytokines to delineate how peripheral innate immune signatures contribute to pathological aging trajectories. Her work also focuses on immune interactions between the periphery and the central nervous system.
Council Member: Marzia Perluigi, PhD
Prof Perluigi obtained her first degree in Pharmaceutical Chemistry (1999) and the PhD in Biochemistry (2003). She has been a post-doc in the laboratory of neurochemistry under the supervision do Prof D Allan Butterfield where she became an expert in the field of redox proteomics. After this experience, she became a permeant assistant professor at the Department of Biochemistry, at Sapienza University where she is currently an Associate Professor.
The main research interest of Prof Perluigi laboratory is to identify redox–regulated molecular mechanisms of neurodegeneration, that are involved in the development of Alzheimer’s disease (AD) in the general population and in particular in Down syndrome (DS) patients. In the last decade, she focused the attention on the analysis of oxidative modifications of proteins and how dysfunction of selected proteins translate into pathological features of a disease state. By following this approach she contributed to shed light on critical molecular determinants underlying aging and cognitive dysfunction. Results obtained by the analysis of human specimens and studies from mouse and cellular models of the disease reveal a molecular link between protein oxidation/aggregation, the integrity of the protein quality control system (proteasome, UPS and autophagy), dysfunction of energy metabolism and neurodegeneration. The team is interested in understanding how disturbance of components of the proteostasis network, that provides a critical protective role against stress conditions, may trigger neuronal death. In parallel, they are investigating in Tg mouse models (DS and AD) drug treatments that may prevent/delay the dysfunction of these selected pathways. Recently, ongoing projects focus on the role of insulin resistance and metabolic defects in accelerating neurodegenerative phenomena and to test therapeutic strategies able to restore insulin signaling.
Council Member: Donna Wilcock, PhD
Dr. Wilcock is an Associate Professor at the University of Kentucky Sanders-Brown Center on Aging. Dr. Wilcock’s research lab is interested in vascular cognitive impairment and dementia; with projects to examine the molecular mechanisms of vascular cognitive impairment, focusing primarily on inflammatory processes. Dr. Wilcock also have projects that determine the influence cerebrovascular disease has on the progression and severity of Alzheimer's disease, as well as how these vascular pathologies affects response to Alzheimer's disease targeted therapeutics. Finally, in collaboration with Elizabeth Head of Pharmacology and Frederick Schmitt of Neurology to assess neuroinflammatory changes in Down Syndrome, we are developing a translational research program examining neuroinflammatory proteins and homocysteine as modifiable biomarkers of cognitive impairment due to both Alzheimer's disease and cerebrovascular pathologies.
Immediate Past Chair: Elizabeth Head, PhD
Dr. Head received a Masters in Psychology and a Ph.D. in Neuroscience from the University of Toronto, Canada. She received postdoctoral training at the Institute for Brain Aging & Dementia at the University of California – Irvine. She was co-leader of the Neuropathology Core of the University of California Irvine Alzheimer’s Disease Research Center and was Director of the Institute’s Brain Bank. Dr. Head moved to the University of Kentucky in January of 2009 and is currently a Professor and Associate Director of Education at the Sanders-Brown Center on Aging. Dr. Head has published over 150 peer reviewed papers, over 30 review papers and book chapters and serves as a grant reviewer for the National Institutes on Health. Dr. Head has dedicated over 20 years to the study of aging and Alzheimer’s disease with a focus on people with Down syndrome.