Eleanor Molloy, Professor of Paediatrics and Child Health, Trinity College, the University of Dublin, Trinity Translational Medicine Institute.
Consultant Neonatologist and Paediatrician, Children's Health Ireland at Tallaght and Crumlin & and Coombe Women's and Infants University Hospital, Dublin, Ireland
Associate Editor-in-Chief, Pediatric Research journal_,_ International Paediatric Research Foundation
Director, Trinity Research in Childhood Centre (TRiCC)
Research interest:
President elect
University of Bologna, Bologna, Italy
Renata Bartesaghi is a neurophysiologist and currently Professor Alma Mater at the Department of Biomedical and Neuromotor Sciences, Medical School of the University of Bologna, Bologna, Italy. She has been working for the past twenty years on Down syndrome. Her work has been focused on mechanisms underlying intellectual disability with the final goal to devise possible means to mitigate cognitive impairment in Down syndrome. To this end, she has complemented studies in human beings with a widely used mouse model of Down syndrome, the Ts65Dn mouse.
University of Colorado Boulder, USA
Program Manager, Crnic Institute Boulder Branch, BioFrontiers Institute, University of Colorado Boulder.
Co-Chair of Science & Society Committee
University of Calcutta, India
Chair of the T21RS Indian Chapter, Co-Chair of the T21RS Science & Society Committee, member of the T21RS Sponsoring & Membership Committee.
Chair of Science & Society Committee
Bambino Gesù Children’s Hospital, Italy
Dr. Costanzo is a Psychologist in the Child and Adolescent Neuropsychiatry Unit of the Bambino Gesù Children’s Hospital in Rome and Adjunct Professor of Developmental Neuroscience at the European University of Rome. Her research interests include the neuropsychological and psychopathological characterization as well as the development of clinical trials for improving cognition and behavior in children and adolescents with Down syndrome.
Past President
King’s College London, UK
Dr André Strydom (MRCPsych, MSc, PhD) is a Professor in Intellectual Disabilities at the world-leading Institute of Psychiatry, Psychology and Neuroscience at King’s College London, where his research is focused on mental disorders in adults with neurodevelopmental conditions, including Down syndrome and other genetic disorders. Professor Strydom is particularly interested in ageing-related conditions such as dementia in adults with Intellectual Disability and Down syndrome. He is the chief investigator of the LonDownS consortium http://www.ucl.ac.uk/london-down-syndrome-consortium which consists of several research groups from prominent London universities (KCL, UCL, QMUoL, Birkbeck and the Crick Institute) collaborating on various aspects of Alzheimer’s disease in Down syndrome. One of the important aims of the consortium is to deliver the knowledge, tools and expertise that is necessary to enable clinical trials of treatment to prevent or delay the onset of dementia in individuals with Down syndrome. Professor Strydom works as a Consultant Psychiatrist in Intellectual Disabilities at the South London and the Maudsley NHS Foundation Trust.
University of California, Irvine, USA
Postdoctoral Scholar Head Lab- Department of Pathology & Laboratory Medicine
University of California, Irvine Department of Pathology & Laboratory Medicine
Chair of the Developmental Clinical Subcommittee
Massachusetts General Hospital, USA
A Board-certified medical geneticist, Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital. As the Director of the hospital’s Down Syndrome Program, he has dedicated his professional energies toward children with cognitive and development disabilities.
Co-chair of Education and Training Committee
University of Bologna, Italy
Marco Emili (PhD) is post doctoral of University of Bologna (Italy). His research is directed to analyze the molecular and physilogical mechanism of brain development, which are altereted in Down syndrome and identify new molecules that can improve neuronal development and cognitive abilities of patients with this condition.Rome
Co-Chair Sponsorship & Membership Committee
Sapienza University of Rome
Co-Chair of Science & Society Committee
Institut Jérôme Lejeune, France
Anne-Sophie Rebillat is a geriatrician. Within the Jérôme Lejeune Institute in Paris, she runs a clinic specialized in the management of age-related diseases for patients with Down syndrome. Her research interest is mainly focused on comorbidities of cognitive functioning with aging in people with Down syndrome, e.g. Alzheimer’s disease and Obstructive Sleep Apnea.
Co-chair of Preclinical Committee
Indiana University-Purdue University Indianapolis. USA
Randall Roper is Associate Professor of Genetics in Department of Biology at Indiana University-Purdue University Indianapolis (IUPUI). His lab studies the origins and treatments of bone deficits associated with Down syndrome.
Chair Program Committee
University of Cambridge, UK
Shahid Zaman is an Assistant Professor in the Department of Psychiatry at the University of Cambridge and an honorary consultant psychiatrist in Psychiatry of Intellectual Disability, Cambridgeshire and Peterborough Foundation NHS Trust (CPFT). He undertakes basic and clinical research primarily in dementia in Down’s syndrome in collaboration with international collaborator others (funded by the NIH USA). Also, supervises or co-supervises research assistants, associates, and PhD students. He contributes to the teaching of psychiatry trainees and medical students. Prof. Zaman also, with the support of the multidisciplinary team, provides a clinical service for people with intellectual disabilities with a range of mental health, behavioural, neurodevelopmental and neuropsychiatric problems (including autism, epilepsy and dementia). He provides a service for East Cambridgeshire.
Chair of Sponsorship & Membership Committee
Sapienza University of Rome, Italy
Eugenio Barone is a Full Professor of Biochemistry at Sapienza University of Rome (IT). He graduated in Pharmaceutical Chemistry and Technology in 2006 and he got a PhD in Neuroscience in 2011. The overarching goal of his laboratory is to clarify the link between defects of neurotrophic signaling and increased cell oxidative damage during aging and neurodegeneration. Studies on Down syndrome (DS) performed in his lab demonstrated for the first time that brain insulin resistance develops relatively early in DS, independently of peripheral alterations, thus representing a brain-specific alteration contributing to intellectual disability and Alzheimer’s disease. Prof. Barone authored 92 publications, most of wich dealt with the role of oxidative stress in neurodegenerative disorders, i.e., Alzheimer’s disease and DS. He was the recipient of prestigious international and national grants from the Alzheimer’s Association (2020-24), Jerome Lejeune Foundation (2019-21 and 2022-24), European Commission (2014-16), and Italian Ministry of Research (2023-25, 2015-18), among the others. Prof. Barone was one of the first two recipients of the SFRBM fellowship Awards (2010) and the recipient of many international awards including those from SFRBM (2015 and 2016), EPHAR (2013), AAIC (2017), and T21RS (2017). In 2021 he was appointed as a member of the European Brain Research Area (EBRA) for the Trisomy 21 cluster. He serves as chair of the Strategic Alliances & Outreach Committee of the Society for Redox Biology and Medicine (SfRBM) and the Sponsoring and Membership Committee of the T21RS.
Chair of Clinical committee
Case Western Reserve University School of Medicine, USA
Dr. Costa is Professor at the Departments of Pediatrics and Psychiatry at Case Western Reserve University School of Medicine. For over two decades, Dr. Costa has been investigating the pathophysiology and potential pharmacotherapeutic approaches to Down syndrome using both preclinical and clinical strategies. He is currently the principal investigator of a phase II clinical trial of the effects of memantine on the cognitive abilities of adolescents and young adults with Down syndrome.
Chair of Science & Society Committee
Hospital de la Santa Creu i Sant Pau, Spain
María Carmona-Iragui is a clinical neurologist and principal investigator in Hospital de la Santa Creu i Sant Pau and Fundació Catalana Síndrome de Down, in Barcelona (Spain). She develops clinical and research activity focused on the treatment and study of neurodegenerative diseases, particularly Alzheimer’s disease, both in the general population and in people with Down syndrome.
Chair of Preclinical Committee
Dementia Research Institute, UK
Dr. Wiseman was awarded an Alzheimer’s Research UK Senior Fellowship (2018) and UK Dementia Research Institute Fellowship (2019) to establish her independent research group at University College London; she also holds the post of UK DRI Programme Leader for Animal Models. Dr. Wiseman has a particular interest in understanding how genes on chromosome 21, other than APP, modify Alzheimer’s disease-relevant phenotypes using preclinical approaches.
Chair of Education and training committee
Bologna University of Bologna, Italy
Fiorenza Stagni is Assistant Professor of Physiology at the University of Bologna (Italy). Her research activity is mainly focused on the identification of the molecular mechanisms underlying cognitive disability in Down syndrome (DS) and the study of the effects of different pharmacological agents on DS-linked neurodevelopmental alterations and cognitive impairment in mouse models of DS.
Treasurer
University of Nevada, Las Vegas
Dr. Thessa Hilgenkamp is a tenure-track Assistant Professor at the Department of Physical Therapy of the University of Nevada, Las Vegas. She is intrigued by the impact of cardiovascular physiological challenges on the ability to exercise and live an active and healthy life for individuals with Down syndrome. She combines her expertise in exercise physiology and physical activity epidemiology to investigate autonomic function, blood flow regulation, oxidative stress and exercise capacity in individuals with Down syndrome in her Cardiovascular Research and Exercise Lab (CARE-Lab).
Secretary
University of Texas, Austin, USA
Jon Pierce (PhD) is Associate Professor of Neuroscience at the Univ of Texas at Austin, USA. When his son was born with Down syndrome, he pivoted to research cellular, molecular and genetic mechanisms in DS – including DS-related Alzheimer’s disease and DS-related autism. His studies leverage high-throughput in vivo platforms and collaboration with clinical researchers to make basic and pre-clinical discoveries.
President
University of California, USA
William Mobley is Professor of Neurosciences, UC San Diego. His lab focuses on the transport of trophic signalling in endosomes and the impact of changes in endosomal structure and function in Alzheimer disease (AD), including Alzheimer disease in Down syndrome (AD-DS). These studies rely heavily on models of AD and AD-DS and aim to employ novel approaches to examining the impact of gene dose on neuronal function and maintenance.
President Elect
Paris Brain Institute (ICM), French National Center for Scientific Research (CNRS). France.
Dr. Marie-Claude Potier is Director of Research at the French National Center for Scientific Research (CNRS) and Co-Group Leader of the “Alzheimer’s and Prion Diseases” research group at ICM-Institut du Cerveau et de la Moelle Epinière (Brain and Spine Institute), at the Pitié-Salpêtrière Hospital, Paris, France. She has been working for the past twenty-five years on Down syndrome (DS) understanding cognitive deficits and Alzheimer’s disease and developing pharmacological treatments.
Larry J. Suva PhD FASBMR (he/him/his)
Professor, Department of Veterinary Physiology and Pharmacology
College of Veterinary Medicine and Biomedical Sciences
Texas A&M University, College Station TX
Dr. Larry J. Suva, originally from Melbourne, Australia, has led a US federally research program for more than 20 years and is currently, PI, Co-PI or Co-I on 5 active NIH R01 level grants.Dr Suva’s research interests are on all things musculoskeletal, with a particular emphasis on the mechanisms driving bone repair and regeneration in Down syndrome.
Weihong Song, MD, PhD, FCAHS.
Vice President-Academic
Wenzhou Medical University
Director
Oujiang Lab, China
APP processing and the role of Aβ in Alzheimer’s pathogenesis and drug development; The molecular links between Down Syndrome and Alzheimer’s Disease.
Patrick Lao, PhD, is an Assistant Professor in the Taub Institute, the GH Sergievsky Center, and the Department of Neurology at Columbia University. He is interested in using neuroimaging to understand the trajectories of Alzheimer’s disease biomarkers in adults with Down syndrome. Even with the triplication of amyloid precursor protein, there is heterogeneity across individuals that can provide insight into mechanisms of risk and resilience.
Anna Esbensen, PhD, is the Sonya Oppenheimer Endowed Chair and a Professor of Pediatrics at the University of Cincinnati College of Medicine in the Division of Developmental and Behavioral Pediatrics at Cincinnati Children’s Hospital Medical Center. She studies the lifespan development of individuals with Down syndrome and provides clinical services to families of children with Down syndrome through the Jane and Richard Thomas Center for Down Syndrome. She also serves as the Research Director for the Thomas Center and the Division of Developmental and Behavioral Pediatrics. Her research focuses on the physical and mental health of individuals with Down syndrome, and their impact on behavioral and cognitive outcomes. She has received and sustained NIH and foundation funding, with a focus on evaluating the appropriateness of cognitive outcome measures in children with Down syndrome and conducting randomized clinical trials in children with Down syndrome targeting sleep and ADHD symptoms. Her service has been recognized with Fellow status of the American Psychological Association and the American Association on Intellectual and Developmental Disabilities, and her research has been recognized with the Pueschel/Tjossem Research Award from the National Down Syndrome Congress and the John Jacobson Award for Critical Thinking from the American Psychological Association.
Bruna L. Zampieri, Ph.D.
Assistant Professor, Universidade de São Paulo (USP), Brazil
Member of the T21RS Preclinical Committee
My group focuses on understanding the molecular and cellular aspects of Down syndrome, particularly those related to neurobiology, using iPSC-derived cells and human studies.
Diletta Valentini, pediatrician and director of Down syndrome Clinic at Bambino Gesù children's Hospital, IRCCS.
My research interest focus on:
- Clinical and immunological aspects of autoimmune disorders in children with Down syndrome
- Nutrition and metabolic syndrome in children in Down syndrome
Dr. Lotta Granholm is a Professor in Department of Neurosurgery at CU Anschutz Medical Campus. She has been working with Down syndrome and Alzheimer’s disease as well as Healthy Aging for the last 35 years. Dr. Granholm was the Inaugural Executive Director for the Knoebel Institute for Healthy Aging at University of Denver and a founding Chair of the Professional Interest Area on Down syndrome at ISTAART. She is a native of Sweden.
Youllee Kim, Ph.D.
Assistant Professor
Department of Communication Studies
University of Denver
2000 E. Asbury Ave., 298 Sturm Hall
Denver, CO 80208
Youllee Kim, Ph.D. (Pennsylvania State University), is an Assistant Professor in the Department of Communication Studies at the University of Denver. She specializes in health communication, with a focus on the social processes involved in health information dissemination and behavior change. Dr. Kim is also deeply interested in the narratives of individuals navigating health and illness, with particular attention to the social and cultural meanings embedded in these experiences.
Noah Johnson, PhD, is an Assistant Professor of Neurology and a Research Faculty Member of the Linda Crnic Institute for Down Syndrome at the University of Colorado, Anschutz Medical Campus. His research is focused on the essential role of the glial-derived inflammatory molecule apolipoprotein E (apoE) in the pathogenic cascades of Alzheimer’s disease, Down syndrome, and other neurodegenerative diseases.
Chair Program Committee
University of Colorado Anschutz Medical Campus, USA
Dr. Kelly Sullivan is an Assistant professor in the Department of Pediatrics at the University of Colorado (CU) Anschutz Medical Campus. He is associated with the Linda Crnic Institute for Down Syndrome and Chair of the T21 RS Program committee.
Md. Mahiuddin Ahmed, PhD - Research Assistant Professor
Email: md.mahiuddin.ahmed@cuanschutz.edu
Md. Mahiuddin Ahmed, PhD, is a Research Assistant Professor at the Linda Crnic Institute for Down Syndrome, and the University of Colorado (CU) Alzheimer’s and Cognition Center at the University of Colorado Anschutz Medical Campus. He has been working at the Linda Crnic Institute for Down Syndrome since 2012. He joined in Dr. Potter’s lab in 2016. Dr. Ahmed received his Ph.D. in Neurobiology from the Yokohama City University in Japan.
Education: PhD, Yokohama City University, Japan
Dr. Christina Coughlan is an Assistant Research Professor in the Department of Neurology, Director of the Biorepository Core, Co-Director of the Exosome Core, a member of the University of Colorado Alzheimer's and Cognition Center (CUACC), and a member of the Linda Crnic Institute for Down Syndrome.
Dr. Daniel Paredes is an Associate Professor at University of Denver in the Knoebel Institute for Healthy Aging (KIHA) and an adjunct faculty member of the Engineering & Computer Science at DU. Dr. Paredes’ work is focused on proteomics and metabolomics of Down syndrome using human tissues and human cell lines.
Dr. Huntington Potter is Professor of Neurology, Director of Alzheimer's Disease Program at the Linda Crnic Institute for Down Syndrome and is Director of the CU Alzheimer's and Cognition Center at the University of Colorado Anschutz Medical Center.
Dr. Joaquin M. Espinosa
Executive Director, Linda Crnic Institute for Down Syndrome
Professor of Pharmacology
University of Colorado School of Medicine, Aurora, Colorado, USA
Dr. Espinosa is the Executive Director of the Linda Crnic Institute for Down Syndrome at the University of Colorado, the largest center for Down syndrome research in the world. Dr. Espinosa directs the Human Trisome Project, a large and detailed study of the population with Down syndrome, as well as novel clinical trials to improve health outcomes in this population. A native of Argentina, he received his PhD in Biology from the University of Buenos Aires. He later completed his training at the Salk Institute in San Diego, California, and began his independent appointment at the University of Colorado in 2004. After the creation of the Crnic Institute, he pivoted from a focus on cancer research to the study of Down syndrome. His research program demonstrated that individuals with Down syndrome display chronic immune dysregulation driven by the extra copy of chromosome 21, leading to several clinical trials testing the safety and efficacy of immunomodulatory strategies to improve health outcomes in this population. He will present on recent research advances and clinical trials.
Kick off the conference with a dynamic gathering that brings clinical and pre‑clinical perspectives together under one roof. A unique space to connect, exchange ideas, and spark the conversations that will shape the days ahead.
| 12:00 | Welcome Prof. Bernard Khor |
| 12:10 | Preclinical Committee Resources updates Profs. Aaron Sathyanesan & Kristy Welshhans |
| Session One: Vaccines | |
| 12:20 | Noemi Spinazzi MD (Children’s Specialized Hospital, USA) Staying Healthy with Down Syndrome – We’ll Give it a Shot |
| 12:40 | Dannah G. Raz MD (Phoenix Children’s Hospital, USA) Pediatric vaccine administration for children with Down syndrome in U.S., UK, Brazil, and Italy |
| 1:00 | Discussion |
| 1:30 | Break 1 |
| Session Two: Congenital Heart Defect | |
| 2:00 | Eva Lana-Elola PhD (Francis Crick Institute, UK) Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome |
| 2:20 | Robin Canac PhD (University of Chicago, USA) Modeling Congenital Heart Defects in human and mouse models of Down Syndrome |
| 2:40 | Discussion |
| 3:00 | Break 2 |
| Session Three: Infantile Spasms | |
| 3:30 | Dan Kats MD (Massachusetts General Hospital for Children, USA) Clinical Overview of Infantile Spasms in Individuals with Down Syndrome |
| 3:50 | Carl Stafstrom MD, PhD Professor (Johns Hopkins Medicine, USA) Infantile spasms in mouse models of Down syndrome: seizure susceptibility and potential mechanisms |
| 4:10 | Anita Datta MD, Associate Professor of Pediatrics (University of British Colombia, Canada) Does First-Line Therapy Influence Outcomes in Trisomy 21 with Infantile Epileptic Spasms Syndrome? A Multi-Center North American Study |
| 4:30 | Discussion |
| 5:00 | End and Acknowledgements |