PIA Executive Committee:

Down Syndrome and Alzheimer's Disease

 

 Chair: Michael Rafii, MD, PhD

Michael Rafii is a board-certified neurologist and Associate Professor of Neurology at the Keck School of Medicine of the University of Southern California (USC). He is Medical Director of the Alzheimer’s Therapeutic Research Institute (ATRI) and leads the Medical Safety Unit of the Alzheimer’s Clinical Trial Consortium (ACTC). Dr. Rafii’s research focuses on the design and conduct of multi-center clinical trials for Alzheimer's disease including a genetic form that occurs in Down syndrome. He is principal investigator of the NIH-funded Alzheimer’s Clinical Trial Consortium - Down Syndrome (ACTC-DS) and co-investigator on the Alzheimer’s Biomarker Consortium-Down Syndrome (ABC-DS). Dr. Rafii is editor of the textbook ‘Common Pathogenic Mechanisms between Down Syndrome and Alzheimer's Disease: Steps toward Therapy.’ He is a scientific reviewer for the National Institutes of Health and the Alzheimer's Association.

Vice 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). 

Programs Chair: Sigan Hartley, PhD 
Sigan Hartley, PhD, is an Associate Professor and the 100 Women Chair in Human Ecology at the University of Wisconsin-Madison. She is also the Associate Director of Training of the Intellectual and Developmental Disabilities Research Core (IDDRC) at the Waisman Center. She is the current President of the American Psychological Association Division 33 (Intellectual and Developmental Disabilities and Autism Spectrum Disorder).
Prof. Hartley is strongly committed to the mission of establishing research networks and advancing scientific knowledge on Alzheimer’s disease (AD) in Down syndrome (DS). She is an investigator on the Alzheimer’s Biomarker Consortium-Down Syndrome (ABC-DS), a longitudinal multi-site research study that tracks biomarkers of AD pathophysiology and cognitive decline in adults with DS. Her expertise is on: 1) identifying cognitive indicators of the transition to mild cognitive impairment and dementia in DS, and 2) understanding the role of lifestyle (physical activity, sleep, cognitive stimulation, and social engagement) on the timing of these transitions. As a Program Chair, her role is to help organize and promote interdisciplinary opportunities for sharing knowledge and building research networks focused on AD in DS through preconference and conference activities.

Council Member: 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.

 Council Member: 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.

Council Member: Matthew P. Janicki, PhD
Matthew P. Janicki, Ph.D. is the co-chair of the US National Task Group on Intellectual Disabilities and Dementia Practices, as well as a research associate professor in the Department of Disability and Human Development at the University of Illinois at Chicago. Previously, he was the director for aging and special populations for the New York State Office for People with Developmental Disabilities, and spent a year as a Joseph P. Kennedy, Jr. Foundation's Public Policy Leadership Fellow at the National Institute on Aging and the United States Senate. He is a member of the federal Advisory Council on Alzheimer’s Research, Care, and Services [under the US National Alzheimer’s Project Act].  Currently, he is leading a longitudinal study of specialized group homes designed for dementia-related care of adults with intellectual disability, including Down syndrome. He was the principal investigator of several federally-funded studies that examined how community agencies provide community supports to adults with intellectual disabilities affected by Alzheimer’s disease and how families are aided by community agencies in supporting adults with Down syndrome affected by Alzheimer’s disease. He was also the project director of a NIH-funded effort that provided the World Health Organization with a series of background reports on promoting longevity among adults with intellectual disabilities throughout the world. He was the founding editor of the Journal of Policy and Practice in Intellectual Disabilities and is also the editor of numerous books and author of articles on aging, dementia, public policy, and rehabilitation concerning adults with intellectual and developmental disabilities (including Dementia, Aging, and Intellectual Disabilities: A Handbook).

Council Member: Katherine Koenig, PhD

Dr. Koenig is an Assistant Professor of Radiology at the Cleveland Clinic Lerner College of Medicine and research staff in Imaging Sciences at the Cleveland Clinic. She obtained her PhD in neuropsychology at Case Western Reserve University, focusing on individuals with developmental disabilities, then completed postdoctoral training in high-field MRI methodology at the Cleveland Clinic. Her work focuses on using high-field MRI to develop biomarkers related to the risk of cognitive decline in neurodegenerative disorders, including the development of dementia in adults with Down syndrome.

 Immediate Past 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. 

CURRENT ISTAART PIAS 

  Cognition

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