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Prof. Floriana Costanzo

Bambino Gesù Children’s Hospital
Rome, 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 behaviour in children and adolescents with Down syndrome.

Prof. Stefano Vicari

Bambino Gesù Pediatric Hospital in Rome

WORK EXPERIENCE

2023 - Coordinator of Neurological Clinic Area, Bambino Gesù Children’s Hospital, Rome

2021 – Director of Clinic in Rehabilitation Center Casa San Giuseppe, Opera Don Guanella, Rome.

2020 – Director of the Specialization School in Child Neuropsychiatry at the Catholic University of Rome, Faculty of Medicine and Surgery.

2019 – Full Professor of Child Psychiatry, Catholic University of Rome, Faculty of Medicine and Surgery.

2007- Head of Child and Adolescent Neuropsychiatry Unit, Department of Neurological and Psychiatric Science, Bambino Gesù Children’s Hospital, Rome.
Organization of the activity of physicians, and psychologists and speech therapists for the Child and Adolescent Neuropsychiatry Unit. Coordination of the outpatient activity, the Day Hospital activity (in 2019, over 9000 days), the ordinary hospitalization and, together with neurologist colleagues, the emergency medical service. Clinical activity is organized according to protocols shared with all colleagues of the Unit and based on scientific evidence and international guidelines. The cases collected are the largest in Italy by number and complexity (Autism, Anorexia, Learning Disabilities, Intellectual Disability, Psychosis, and Mood Disorders).

2017- Member of the “Psychiatry Panel" of the Italian Episcopal Conference.

2015- Founder of ReTe Institute of Neuropsychiatry, Institute for Research and Therapy in Developmental Age, Rome.

2015- Founder and member of the Scientific Committee of the Italian Association for Autism Research.

2013-2014 Screenwriter and lead actor of the television docu-fiction “Disordini”, produced by “Rai Educational” in six episodes broadcast by the Rai networks.

2011- Professor of Child Neuropsychiatry at the School of Specialization in Psychiatry of University of Rome “La Sapienza” and several post-grad and advanced courses.

2001-2009 Professor of Physiological Psychology at the LUMSA University of Rome.

2000-2007 Head of the Neurological and Rehabilitative Unit, Bambino Gesù Children’s Hospital, Santa Marinella, Rome.

1997-2000 Medical Director, Bambino Gesù Children’s Hospital, Rome.

1992-1997 Assistant Neurologist, Neurological and Rehabilitative Unit, Children Hospital Bambino Gesù, Santa Marinella, Rome.

1987-1992 Assistant Neurologist, Clinical Fellow, Neurological and Rehabilitative Unit, Children Hospital Bambino Gesù, Santa Marinella, Rome.

EDUCATION AND TRAINING

2014 National Scientific Qualification as Full Professor. Sector 06/G1: General and Special Pediatrics, Child Neuropsychiatry.

1989-1993 Training in cognitive-behavioral psychotherapy at the Rome office of the Italian Society of Cognitive-Behavioral Therapy.

1988 Specialization in Neurology at the Sapienza university of Rome, magna cum laude and publication of the thesis entitled “Alzheimer Disease and Down Syndrome: neuropsychological differential features”.

1984 Medical degree magna cum laude at the University of Rome “La Sapienza”, thesis in Neurophysiology.

1982-1984 Visiting student at Neurology Clinic of the Sapienza University of Rome (Prof. Giorgio Bernardi).

PERSONAL SKILLS AND COMPETENCE:

MOTHER TONGUE: Italian
OTHER LANGUAGES: Excellent English
READING, WRITING, SPEAKING Excellent

OTHER SKILLS

Excellent interpersonal skills acquired by working with institutions and families, in collaborations with clinical institutes, national and international research centers, and through scientific dissemination activities.

Excellent organizational skills acquired thanks to the positions of head of a hospital operating unit, director of a training and research institute, manager of teaching, training courses, masters and specialization courses, PI of several research projects, including international network projects.
 
Excellent skills for all Microsoft Office packages and statistical data analysis software (SPSS, STATISTICA, REDCAP..).
Periods abroad:
2017, visiting Professor at the Hospital General Dr. Manuel Gea Gonzalez, Mexico City

1992, 2000 visiting researcher at Institute for Basic Research in Developmental Disabilities of New York, headed by Prof. Henry M. Wisniewski.

1991, 1994, 1999 visiting researcher at the Research Center in Language of the University of California, San Diego headed by Prof. Elizabeth Bates.

Institutional research activity (international)

2019- Increasing knowledge on the cognitive and behavioral trajectory of children and adolescents with Down syndrome (DS).  Clinical Child Developmental Committee of the T21RS (Trisomy 21 Research Society)

2018- Enhancing care procedures, research and cultural approaches on Autism Spectrum Disorders in Low and Middle income countries. The Autism Spectrum Disorders International Consortium (ASDIC)

2018-2019 Talkitt: Beta project. Funded by the European Commission, Orizon 2020.

2015- Jerome Lejeune Foundation, grant “Evaluation of a clinically-used Cl- transporter inhibitor to rescue cognitive functions in Down syndrome: a clinical trial study”.

2013- European Research - Seventh Framework Programme: Aggression subtyping for improved insight and treatment innovation in psychiatric disorders (Agressotype).

2014-2016 Phase II study, multicenter, randomized, double-blind, placebo-controlled to test efficacy, safety and tolerance in adults and adolescents with Down Syndrome (clematis). Funded by ROCHE.

2014-2015 Suicidality: Treatment Occurring in Pediatrics - STOP. Funded by the European Commission.

2013-2015 Randomized, double-blind, placebo controlled study for the use of Risperidone to treat Conduct Disorder in children and adolescents. Funded by “Radboud University Nijmegen Medical Center”.

2012-2015 Validating non-invasive imaging of the serotoninergic and dopaminergic system and adult neurogenesis with MRI. Funded by the European Commission.

2010-2013 PERS (Pediatric European Risperidone Studies) Project - European Commission Research Directorate –General.

2006-2008 Telethon Foundation “Genotype-phenotype correlations in Williams-Beuren Syndrome individuals through the analysis of global gene expression changes by microarray tools. A study on the Williams syndrome: Developmental cognitive and linguistic aspects”.

2005-2006 International Research (PI): “Visual-Spatial Working Memory in Individuals with Down and Williams Syndrome” Jerome Lejeune Foundation - Scientific Grants.

1998-2000 International Research Project (PI) – Telethon Foundation: “Study on the Williams Syndrome: Links between genes, Neurobiology and Cognition”.

Institutional Research Activity (Italy):
2016-2019 Italian Autism Spectrum Disorders Network: Filling the Gaps in the National Health System Care Completed Research Support.

2017- Member of the Italian I.R.C.C.S. Network for research in Pediatrics.

2017- Research on suicide prevention in pediatric age. Fratini Foundation.

2016- PI of the project “Dislessia on-line: screening and rehabilitation of reading difficulties”. Telecom Foundation.

2016- Research funded by the Italian Ministry of Health: “Italian Autism Spectrum Disorders Network: filling the gaps in the national health system care”.


2014- E.D.I. Early Identification of children and adolescents at risk for addiction. Funded by the Italian Presidency of the Council of Ministers– Department of Anti-Drug Policy.

2014-2015 Research in Neuropsychiatry funded by Fondazione Memmo.

2011-2013 Research funded by Istituto Superiore Sanità: “Priomechild”.

2011-2013 Research funded by Roma Solidale Foundation.

2011-2013 Research funded by the association “Una breccia nel Muro”.

2011-2013 Research: “Non invasive tools for early detection of Autism Spectrum Disorders” funded by the Italian Ministry of Health.

2011-2012 Research projects (PI): “Study on perception abilities in neurodevelopmental disoders” and “The role of executive functions in child neuropsychiatric disorders, funded by the Italian Ministry of Health.

2010-2013 Study Rainbow 1 and 2: Natural History of Post-Traumatic Stress Disorder, in collaboration with ordine dei Camilliani.

2010-2013 Research project “Filippide” - Sport and Medicine against autism.

2007-2011 Research project (PI): “Imitation abilities and executive functions in children with autism”, funded by the Italian Ministry of Health.
2007-2011 Research project (PI): “The study of executive functions: new perspectives for understanding the genetic and neurobiological basis of neurodevelopmental disorders”, funded by the Italian Ministry of Health.

2007-2011 Research project (PI): “The executive functions in intellectual disability”, funded by the Italian Ministry of Health.

2007-2011 Research project (PI): “Study of the executive functions in child neuropsychiatry”, funded by the Italian Ministry of Health.

2001-2014 PI for the Child Neuropsychiatry Unit of the FIRB project "Action and perception in building the cognitive world”, funded by the Italian Ministry of Education and Research.

1999-2000 Research project (PI): "Features of Implicit and explicit memory in children with Down Syndrome: clinical assessment and rehabilitation", funded by the Italian Ministry of Health.

1997 Research project (PI): "Linguistic development in children with early focal brain injury”, funded by the Italian Ministry of Health.

1996 Research project (PI): "Verbal language: development under healthy and pathological conditions. Models for rehabilitation”, funded by the Italian Ministry of Health.

1995 Research project (PI): "The child with Down Syndrome and intellectual disability: development and cognitive features”, funded by the Italian Ministry of Health.

2014-2016 Transcranial direct current stimulation in the treatment of dyslexia: a randomized double-blind study.
1992-1994 Research project (PI): "Early focal brain injury: neuropsychological features”, in collaboration with Prof. Joan Stiles-Davis, University of California, San Diego.

1992-1994 Research project (collaborator): "Genetic, endocrinology and neuropsychologycal features of Williams Syndrome”.

1990-1991 Research project (PI): "Features of cognitive development in children with intellectual disability: delayed or atypical?”.

1990-1991 Research project (PI): "Specific attention disorders in children with Down Syndrome: developmental cognitive features”.

1989-1990 Research project (PI): "Neuropsychological Patterns neuropsicologici in individuals with intellectual disability with or without cognitive decline”.

Reviewer for scientific journals and publishing activities.
Reviewer for the following international journals:

Brain
Experimental Brain Research
Neuropsychologia
Neuropsychology
Brain and Cognition
American Journal on Mental Retardation
Neurological Sciences
Neurocase
Cortex
Journal of Intellectual Disability Research
Developmental Medicine and Child Neurology
Journal of Experimental Child Psychology
Dyslexia
European Journal of Paediatric Neurology.

Consulting editor for scientific journals:
Neuropsychology.
Consulting editor for scientific journals:
Neuropsychology

Honors and Awards
2018 "King Salman Award for Disability Research" Award, for the excellence in scientific research on disability. Rihad, Saudi Arabia.

Scientific Publications:HI: 70 (Scholar). HI: 54 (Scopus)
Orcid ID: https://orcid.org/0000-0002-5395-2262.
Scopus ID: 60031984
Authors of about 300 scientific papers on peer-revieved journal, several books and book chapters.

Rome, 04 Ago 2023

In compliance with the GDPR and the Italian Legislative Decree no. 196 dated 30/06/2003, I hereby authorize you to use and process my personal details contained in this document.

Dr. Diletta Valentini

Bambino Gesù Pediatric Hospital in Rome

Occupational field or position held:

- From June 2008 onwards Bambino Gesù Children's Hospital in Rome, Italy.
- From December 2013 Clinical Director of the Down syndrome centre, Bambino Gesù Children's Hospital in Rome, Italy.
- From January 2017, assignment of High Specialization "Down Syndrome”
- From July 2021 Clinical Director of the “Follow-up General Pediatric” Unit, Bambino Gesù Children's Hospital in Rome, Italy.

Skills and competences:

- Author of 52 medical reports in Pubmed; H index 16
- Ad hoc Reviewer: Italian Journal of Pediatrics ; Journal of Pediatric Infectious Diseases; Journal of Intellectual Disability Research and Archives of Diseases in Childhood

Narrative report:

I have dedicated my professional energies toward children with cognitive and developmental    disabilities, with a particular focus and expertise on Down syndrome. I spend approximately 60% of my time dedicated to clinical excellence, 35% on research activities, and 5% on administrative responsibilities.
In the area of Clinical Expertise and Innovation, I helped launch one nationally recognized Down syndrome centre, at Bambino Gesù children’s Hospital. I am frequently invited to give lectures and Grand Rounds on topics related to Down syndrome around the world. My scholarship has also included one book about Down syndrome-clinical care. I most recently was first author on a chapter about clinical care for patients Down syndrome in a definitive internationally utilized textbook for medical provides. I also collaborate and oversee a national, longitudinal, multi-centre Down syndrome patient registry, which has resulted in publications, helping to change the way that clinical care is delivered by providers across the country.

Dr. Fiorenza Stagni

University of Bologna (IT)

Last name: STAGNI
First name: FIORENZA
Date of birth: 28/06/1985
Nationality: Italian
Institutional address: Department for Life Quality Studies (QUVI), University of Bologna, Corso D’Augusto 237, 40123 Rimini, Italy; Laboratory address: Physiology Building (DIBINEM), Piazza di Porta San Donato 2, 40126 Bologna, Italy
Email address: fiorenza.stagni2@unibo.it Phone: +39 051 2091721

EDUCATION

2014: Doctoral Degree in Biomedical Science, Curriculum Neurophysiology, University of Bologna, Italy.
2010: Master of Science in Medical Biotechnology, University of Bologna, Italy. Grades: 110/110 cum laude.

ACADEMIC CAREER

October 2022-today: Senior Assistant Professor of Human Physiology, Department for Life Quality Studies, University of Bologna, Italy.
November 2020: National Scientific Qualification as Associate Professor of Physiology.
2020-2022: Assistant Professor of Human Physiology, Department for Life Quality Studies, University of Bologna, Italy.
2014-2019: Postdoctoral Research Fellow, Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.

TEACHING EXPERIENCE

2021-today: Course of Physiology of Nutrition for the Second Cycle Degree in Human Nutrition, Well-being and Health, University of Bologna, Italy.
2021-today: Course of Physiology of Nutrition for the Second Cycle Degree in Sciences and Techniques of Sports Activities, University of Bologna, Italy
2020-today: Course of Skin and Skin Annexes Physiology for the Second Cycle Degree in Advanced Cosmetic Sciences, University of Bologna, Italy.

MAJOR RESEARCH FIELD

Therapeutic approaches for the rescue of brain development in the Ts65Dn mouse model of Down syndrome; Molecular mechanisms underlying brain alterations in Down syndrome; Characterization of early brain alterations in individuals with Down syndrome.

METRICS

ORCID Code: 0000-0002-2226-7844
Articles, all on Down syndrome: 30; Number of citations (Scopus): 673; H-index (Scopus): 14

NATIONAL AND INTERNATIONAL GRANTS

2022-today. Cassa di Risparmio Foundation. “Astaxantina: un potente antiossidante naturale per prevenire lo sviluppo dell’Alzheimer nella sindrome di Down”. Co-investigator.
2021-today. Jerome Lejeune Foundation, France. “Effect of adolescent treatment with the flavonoid 7,8-DHF on brain wiring, synaptic plasticity and cognitive performance in a model of Down syndrome”. Principal investigator.
2021-today. Cassa di Risparmio Foundation. “Terapia adolescenziale con beta2 agonisti approvati per uso pediatrico: nuova strategia per ripristinare i circuiti cerebrali nella sindrome di Down”. Co-investigator.
2018-2020. Mariani Foundation, Italy. “Preventive therapy for intellectual disability in Down syndrome with a flavonoid agonist of the TrkB receptor for BDNF”. Co-investigator.
2018-2019. Jerome Lejeune Foundation, France. “Prenatal treatment with a BDNF mimetic: a potential strategy for improving brain development in the Ts65Dn mouse model of Down syndrome”. Co-investigator.
2015-2019. Generali e Assicurazioni Generali Foundation, Italy. "New avenues for the rescue of intellectual disability in Down syndrome". Co-investigator.
2013-2015. Jerome Lejeune Foundation, France. In the search of new therapies for the rescue of brain development in Down syndrome”. Co-investigator.
2012-2015. Telethon Foundation, Italy. "Preventive therapy of mental retardation in Down syndrome by a novel gamma-secretase inhibitor: focus on APP-dependent mechanisms in neurodevelopment" (GGP12149). Co-investigator.
2011-2013. Jerome Lejeune Foundation, France. “Early pharmacotherapy to rescue brain development and cognitive performance in Down syndrome”. Co-investigator.

FELLOWSHIPS AND AWARDS

Second prize for the best EYPS Slam Communication in the European Young Physiologists’ Symposium (Bologna, September 2019).
“Young Investigator Travel Grant” for the participation to the 3rd International Congress of the Trisomy 21 Research Society (Barcelona, 2019).
"Carnot training fellowship" in the framework of a collaboration with Dr. Marie-Claude Potier from the Institut du Cervaeu et de la Moelle Epiniere (ICM Institute). Paris, France (March 1-March 31, 2018).
“Young Investigator Travel Grant” for the participation to the 2nd International Congress of the Trisomy 21 Research Society (Chicago, 2017).
Selected as one of the ten top finalists running for the national prize “Giovedì Scienza Sesta Edizione” (2017).
“ECNP Travel Award 2016” for the abstract entitled “Neurogenesis in the hippocampal dentate gyrus of a Down syndrome model can be restored by neonatal treatment with an agonist of the BDNF TrkB receptor”.
“Annette Karmiloff-Smith Dissertation Award” of the Trisomy 21 Research Society for the best PhD thesis in the field of Down syndrome (defended in 2014 and 2015).
“Junior Investigator Travel Grant” for the participation to the 1st International Congress of the Trisomy 21 Research Society (Paris, 2015).

PATENT DEVELOPMENT

Filing in the United States of the patent no.: 10,945,989 B2. Title "Perinatal treatment with a flavonoid agonist of the TrkB receptor for BDNF rescues neurogenesis and behavior in the Ts65Dn mouse model of DS". Co-inventor with Prof. Renata Bartesaghi.

RECENT PROFESSIONAL ACTIVITIES

2023-today. Head of the Committee for Education and Training of Trisomy 21 Research Society
2022-today. Review Editor on the Editorial Board of Frontiers of Neuroscience.
2019-2023. Member of the Committee for Education and Training of Trisomy 21 Research Society.
2019-today. Member of the “Down Syndrome and other Genetic Developmental Disorders Network” of the European College of Neuropsychopharmacology (ECNP).
Invited speaker. 2nd International Conference on Neuroprotection by Drugs, Nutraceuticals, and Physical Activity, December 9-10, 2021, Virtual. Presentation title: “Early treatment with nutraceuticals and drugs for the rescue of intellectual disability in Down syndrome”.
Invited speaker in the International Session of IV Convegno Sindrome di Down: dalla diagnosi alla terapia. Virtual; October 16-17, 2020. Presentation title: “The benefit of early therapy in Down syndrome: lesson from the Ts65Dn mouse model.
Invited speaker. 33rd ECNP Congress of Applied and Translational Neuroscience. Symposium “Correction of circuit specific and dendritic alterations in Down syndrome and other intellectual disabilities”. 12-15 September 2020.
Invited speaker. World Congress of Neurology and Brain Disorders. Paris, France; April 15-16, 2019. Presentation title: “Perinatal therapy with a BDNF mimetic: a winning card for the rescue of intellectual disability in Down syndrome?”.

Dr. Marco Emili

Co-chair of Education and Training Committee.
University of Bologna (IT)

Marco Emili (PhD) is a Post Doctoral Researcher in Neuro-physiology at the University of Bologna (Italy). His research is focused on the identification of the molecular and physilogical mechanism of brain development, which is altereted in Down syndrome, and identify new molecules that can improve neuronal development and cognitive abilities of patients with this condition.

Prof. Filippo Caraci

University of Catania (IT)

Prof. Caraci graduated MD in 2001 and he got his PhD degree in Neuropharmacology in 2009 at University of Catania. In March 2021 he was appointed Associate Professor in Pharmacology at University of Catania and in February 2022 Chief of the Unit of Translational Neuropharmacology and Translational Neurosciences at IRCCS Associazione Oasi Maria SS., Troina, Italy. He was appointed Visiting Professor at University of Bordeaux in 2016/2017 as winner of the Visiting Scholar Grant 2016/2017 and Visiting Professor at McGill University in 2019 and Visiting Professor at University of Kansas in 2022. He is also Co-Editor of Current Neuropharmacology and Associate Editor of Frontiers in Experimental Pharmacology and Drug Discovery and Current Research in Pharmacology and Drug Discovery.
Prof. Caraci has worked in the field of drug discovery in depression, Alzheimer’s disease and Down Syndrome with the aim to identify new pharmacological targets. Prof Caraci has been studying the physiology and pharmacology of TGF-ß1 and its role in the pathophysiology of cognitive dysfunction in AD and Down Syndrome. He recently identified a a key role for TGF-ß1 in synaptic plasticity and recognition memory formation. He has also coordinated different genetic and observational studies in cognitive disorders with the aim to validate in vivo the same pharmacological targets identified in preclinical studies. He has published more than 200 papers in peer reviewed journals (7536 citations; H Index = 48 www.scopus.com). He is responsible from February 2021 of the Research Unit of IRCCS Oasi Troina (Italy) and Coordinator of the Communication Board in the European Project ICOD “Improving cognitive performance in Down syndrome patients” (Coordinator Prof. Rafael de La Torre, IMIM, Barcelona, Spain). In the context of the ICOD project he recently organized in Troina (Italy) the First ICOD symposium in occasion of the World Down syndrome Day.

Prof. Renata Bartesaghi

University of Bologna (IT)

Renata Bartesaghi is Professor Alma Mater at the University of Bologna, Bologna, Italy. She is a neurophysiologist, with a strong track record in the field of Down syndrome. Research carried out during the past 20 years has focused on the mechanisms underlying brain developmental alterations in Down syndrome and the search of therapies aimed at improving cognitive impairment. She is author of more than 50 publications in the field of Down syndrome. She has been member of the Trisomy 21 Research Society since its foundation and headed the Committee for Education and Training of the Society in the period 2014-2019. She is member of the Down syndrome Italian Task Force, a working group formed by Italian scientists and the presidents of AIPD and COORDOWN, the two main Down Syndrome Associations operating in Italy. The mission of this working group is to promote scientific research and disseminate knowledge to improve the quality of life of people with Down syndrome.

Prof. Sandra Guidi

University of Bologna (IT)

Sandra Guidi is Associate Professor of Physiology in the Medical Faculty of Bologna University (Italy). Her research is directed to analyze the molecular and physiological mechanism of brain development, that are modified in chromosomal diseases like Down syndrome. Currently, she is studying the effects of pharmacotherapies that can improve neuronal development and cognitive abilities of patients with Down syndrome.

Dr. Rosa Anna Vacca

National Research Council (CNR) in Bari (IT)

Rosa Anna Vacca is a Senior Researcher at the Italian National Council of Research (CNR) in the Institute of Biomembranes Bioenergetic and Molecular Biotechnology, Bari, Italy. She graduated in Biological Sciences and got PhD in Biochemistry and Molecular Biology in 1998. She achieved the National Scientific Qualification as both Associate (in 2017) and Full professor (2023) in Biochemistry in the Italian Higher Education System. 

She main research interests are aimed to analyse the molecular mechanism/s underlying brain mitochondrial alterations and the role of mitochondrial dysfunctions in the pathogenesis of neurodevelopmental diseases.  Dr Vacca interest is also addressed to natural and/or non-pharmacological therapies for managing brain bioenergetics and neurobehavioral symptoms in intellectual disability-related diseases including Down syndrome. Data published from Dr Vacca team have provided new evidence for the critical role of mitochondrial dysfunctions and the resulting oxidative stress in the pathogenesis of Down syndrome and have identified new potential targets for therapeutic strategies aimed at improving brain mitochondrial dysfunctions and cognitive impairment.

Dr Vacca authored 70 publications, most of which regarding the role of mitochondrial dysfunctions in neurodevelopmental diseases and 20 of which regarding Down syndrome studies. She received prestigious international and national grants for Down syndrome studies from CNR (2022-2024, 2020-2022), Jerome Lejeune Foundation (2010-2012, 2016-2018) and Italian Ministry of Research (2010-2012). She was appointed as a member of the Scientific Advisory Board of the Jerome Lejeune Foundation (2017-2020). 

She is deeply involved in numerous outreach and research dissemination activities with the mission to promote the knowledge of the scientific research on Down syndrome for Down syndrome family’s associations and parents; she has organized and participate at about 30 dissemination events between 2016-2023 and at video and radio interviews for national TV, radio.

Dr. Maria Chiara Pelleri

University of Bologna (IT)

Maria Chiara Pelleri is Associate Professor of Experimental Biology at University of Bologna (IT). Her research interest focuses on understanding genetic  and molecular mechanisms  of  Down  syndrome  with  the  ultimate  goal  of  identifying  possible new therapeutic approaches, in particular for intellectual disability.

Prof. Lucio Nitsch

University of Naples (IT)

Lucio Nitsch is Professor Emeritus at the University of Naples Federico II. He graduated in Medicine and Surgery and spent long periods of training abroad, mainly in the United States, at the NIH in Bethesda. He was full professor at the School of Medicine of the University Federico II where he taught Biology that Genetics for about 40 years. Since the 1990s he has also been Head of a Cytogenetics and Cytogenomics Unit and initiated new lines of research on Down syndrome, which has since become his main research activity. He contributed to characterizing mitochondrial alterations in Down syndrome, finding one of the genes that causes them, and identifying approaches to correct them. He has helped elucidate the consequences of upregulation of other Hsa21 genes and is to date engaged in identifying Hsa21 genes whose normalization may have beneficial effects on the Down syndrome phenotype. He has been a member of the University Evaluation Board, Department Director, PhD Coordinator, coordinator of national projects, member of numerous scientific societies and referee for both Biology and Genetics journals. Since 2017, he has organized an annual national conference on 'Down Syndrome: from Research to Therapy'. He is coordinator of the Italian Down Syndrome Task Force.

Dr. Iris Scala

University of Naples

EDUCATION

Degree in Medicine (1999) at the University of Naples Federico II (110/110 magna cum laude);

Specialization in Paediatrics (2004) at the University of Naples Federico II (70/70 magna cum laude);

PhD in “Human Reproduction, Development and Growth” (2008) at the University of Naples Federico II;

From 2008 to 2010, Postdoctoral fellowship in ‘Scienze Mediche dell’Età Evolutiva’.

EMPLOYMENT

Pediatrician, full time, at the Department of Maternal and Child Health, Federico II University Hospital, Clinical Genetics Unit.

RESEARCH ACTIVITY

Genetic disorders (dysmorphology, chromosomal disorders, multifactorial  diseases)

Hereditary metabolic disorders

From 2002-present, Dr Scala has been involved in the research of the metabolic and molecular mechanisms of Down syndrome and principal investigator or co-investigator in clinical trials for Down syndrome.  She has a long standing experience in the clinical follow-up of subjects with Down syndrome.

Prof. Bing Ye

University of Michigan (USA)

Dr. Ye is the Burton L. Baker Collegiate Professor of the Life Sciences at the University of Michigan (U-M). He is a Professor in the Life Sciences Institute and the Department of Cell and Developmental Biology of U-M medical school. Dr. Ye received his PhD in neuroscience from Johns Hopkins University School of Medicine. After his postdoc training at UCSF, he joined the U-M faculty in 2008. Dr. Ye is currently the research associate dean of the U-M Life Sciences Institute and the director of the Perrigo Undergraduate Summer Fellowship Program. The focus of Dr. Ye’s research focus is to address how neuronal development contributes to the assembly and function of the nervous system and how defects in this process lead to brain disorders, including those in Down syndrome.

Dr. Antonella Izzo

University of Naples

Dr. Antonella Izzo graduated in Medical Biotechnology in 2007 at the University “Federico II” in Napoli. In 2011 she got the PhD in Molecular Pathology and Physiopathology at the Department of Molecular and Cellular Biology and Pathology, University “Federico II” of Naples. The research work carried out during the PhD, and in the following years as postdoctoral fellow at the University Federico II of Naples, focused on the study of the functions of genes located on chromosome 21, which causes Down syndrome (DS) when trisomic. Molecular, functional and morphological studies on human fibroblasts, derived from trisomic and euploid fetuses, allowed to identify the molecular mechanisms by which trisomy of chromosome 21 causes the mitochondrial phenotype. She defined the role of the co-repressor NRIP1, whose overexpression in trisomy 21 alters mitochondrial function. She developed two different strategies to counteract mitochondrial dysfunction: direct silencing of NRIP1 by siRNAs and activation of its downstream pathways with pharmacological strategies.

In 2018, Antonella Izzo was appointed researcher at the Department of Molecular Medicine and Medical Biotechnology of the University "Federico II" of Naples. Her research project is focused on studying the biological and molecular consequences of trisomy 21 on mitochondrial phenotype and neurogenesis. To this aim, induced pluripotent stem cells derived from human fibroblasts trisomic for chromosome 21 are used as a disease model and differentiated into neural precursor cells and cortical neurons. Since almost all individuals with DS develop Alzheimer's disease (AD) very early, the hypothesis is that aged trisomic cortical neurons may represent a good cellular model to unravel the molecular mechanisms that cause AD, and to develop strategies to counteract its evolution.

Prof. Antonella Tramutola

Sapienza University (IT)

Antonella Tramutola is an Assistant Professor at Dept of Biochemistry, at Sapienza University of Rome. Her research interest lies in understanding the disturbance of components in the proteostasis network, which plays a crucial protective role against stress conditions, focusing on aging, Alzheimer disease and Down syndrome. In her endeavors, she utilizes human post-mortem brain analysis, cell cultures, and animal models to shed light on the mechanisms underlying neurodegenerative diseases, with a particular focus on Alzheimer disease and Down Syndrome. Moreover, she is also interested in studying the role of microRNAs associated with the triplication of chromosome 21 in Down Syndrome.

Prof. Fabio Di Domenico

Professor at the Department of Biochemical Sciences
Sapienza University (IT) 

Fabio Di Domenico is Full professor at the Department of Biochemical Sciences of Sapienza University of Rome.His research is currently focused on understanding the role of defective proteostasis in the development of Alzheimer disease in DS and normal population in order to deepen the knowledge of the molecular mechanisms involved and propose novel effective therapeutic approaches that might ameliorate cognitive decline.

Marie-Claude Potier

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.

Andre Strydom

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.

Lisi Flores

University of California, Irvine, USA

Postdoctoral Scholar Head Lab- Department of Pathology & Laboratory Medicine
University of California, Irvine Department of Pathology & Laboratory Medicine

Brian Skotko

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.

Marco Emili

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.

Marzia Pierluigi

Co-Chair Sponsorship & Membership Committee
Sapienza University of Rome

Anne-Sophie Rebillat

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.

Randall Roper

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.

Prof. Shahid Zaman

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.

Alberto Costa

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.

María Carmona-Iragui

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.

Frances Wiseman

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.

Fiorenza Stagni

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.

Thessa Hilgenkamp

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).

Jonathan Pierce

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.

William Mobley

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.

Prof. Liz Head

Professor And Vice Chair For Research
University of California Irvine, United States

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 Memory Impairments and Neurological Disorders (UCI MIND) at the University of California – Irvine. She is a Professor and Vice Chair for Research in the Department of Pathology & Laboratory Medicine. Dr. Head has dedicated over 25 years to the study of aging and Alzheimer disease with a focus on people with Down syndrome using multidisciplinary and translational approaches.

Prof. Yasuji Kitabatake

Associate Professor
Osaka University, Japan

Dr. Kitabatake is an Associate Professor in the Department of Pediatrics, and a Deputy Director of Center for Maternal, Fetal and Neonatal Medicine at Osaka University Hospital (Japan). He is involved in clinical care for children with Down syndrome and actively conducts basic research using human iPS cells and genome editing technology, with a particular focus on constructing disease models and developing gene therapy for intellectual disabilities.

Assoc. Prof. Sujay Ghosh

Associate Professor
University Of Calcutta, India

Dr. Sujay Ghosh, is currently Associate Professor, Department of Zoology, Cytogenetics and Genomics Research Unit, University of Calcutta, Kolkata, India and Chair of Trisomy 21Research Society (T21RS) Indian Chapter, He is a geneticist. His area of interest includes genetics of causes and consequences of trisomy 21 conditions.   He obtained his Ph.D. from the west Bengal University of Technology, India and did his post doc research under the supervision of Stephanie Sherman, Emory University, USA. During his research training and independent investigator career, he has amassed expertise in a number of different areas related to Down syndrome that include genetic and environmental risk factors associated with Down syndrome birth, as well as Alzheimer disease and congenital heart defects in Down syndrome from India.

He has held several leadership roles, including recent lead-investigator roles in Indian survey on the COVID19 infection among the individual with Down syndrome, as a member of COVID19-Down syndrome global task force constituted by Trisomy 21 research society (T21RS). Two years ago, he was selected as member of the pre-clinical committee and membership committee of T21RS. 

He took a leading role in prioritizing the COVID19 vaccination of individuals with Down syndrome in India and have organized six dedicated vaccination clinics for Down syndrome individuals, their family members and care givers in association with the Department of Health, Government of West Bengal (province), India. He also takes leadership in organizing health clinics as an outreach program for individuals with Down syndrome in the rural areas of India. In doing so, he has developed a Down syndrome network system in West Bengal that connects many non-Governmental organizations and parent groups and he motivates the families to participate in the research activities conducted by his research team of T21RS, Indian chapter.

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Prof. Eugenio Barone

Chair of Sponsorship & Membership Committee
Sapienza University of Rome, Italy

Eugenio Barone is an Associate 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.

Prof. Jie Lu

Director Of Department Of Human Anatomy
China Medical University, China

Jie Lu received his bachelor’s degree in medicine (1994) from China Medical University and his Ph.D. in neurobiology (2004) from the Max Planck Institute of Psychiatry/University of Minho, after which he worked as a postdoc and then as an instructor at Beth Israel Deaconess Medical Center in USA until 2015. He is currently the Professor and Director of the Department of Human Anatomy at China Medical University. Professor Lu's research interests mainly include cortical development in Down syndrome, focusing on the genetic and epigenetic regulation of neurogenesis in Down syndrome using human neuroprogenitors. His research has been supported by grants from the National Natural Science Foundation of China. He has published over 50 peer-reviewed articles in Progress in Neurobiology, Human Molecular Genetics, Molecular Psychiatry, Development, Journal of Comparative Neurology, Neuroscience, and so forth.

Dr. Laura Cancedda

Senior Group Leader Tenured
Istituto Italiano di Tecnologia (IIT), Italy

Laura Cancedda graduated in Medicinal Chemistry and Pharmaceutical Technologies at the University of Genoa in 1999. She received her PhD in neurophysiology at the Scuola Normale Superiore (Pisa, Italy) in 2003. After her doctorate, she moved to California, University of Berkeley. In 2007, she returned to Italy at Italian Institute of Technology, where she now coordinates the Brain Development and Disease Lab. She is also a former researcher of the Telethon Dulbecco Institute (2016-2022), and alumna of the FENS-KAVLI network of excellence alumni. In 2016, she received a Consolidator grant from the European Research Council (ERC). In 2022, she funded IAMA therapeutics based on her research findings.

Prof. Marzia Perluigi

Professor
Sapienza University, Italy

Marzia Perluigi, PHARMAD, Head of Laboratory of Redox Biochemistry in Neuroscience (LRBN).

Professional appointments: Professor of Biochemistry, Department of Biochemical Sciences – Medical School Sapienza University of Rome”

The major research interest is the study of the role of oxidative stress in Down Syndrome (DS) and Alzheimer Disease (AD). Projects involve both the analysis of post-mortem brains, biological fluids and cellular and animal models of the diseases. In particular, current projects focus on defects of energy metabolism, failure of protein quality control (UPS and autophagy), impairment of mitochondrial activity, both in DS and AD. Further, preclinical studies are ongoing to test the neuroprotective effects of selected compounds able to prevent/slow the onset of dementia.

Prof. Shahid Zaman

Professor (Assoc.) In Psychiatry Of Intellectual Disability & Hon. Consultant Psychiatrist
University of Cambridge, United Kingdom

Shahid Zaman, MD, PhD is an Associate 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 is a Fellow of the Royal College of Physicians and a Fellow of the Royal College of Psychiatrists. 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, he supervises or co-supervises research assistants, associates, and PhD students. He has over 100 publications and contributes to the teaching of psychiatry trainees and medical students. Dr. 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.

Call for symposia

Dear Colleague,

On behalf of the Organizing and Programme Committees, it is with great pleasure that we announce our 5th Trisomy 21 Research Society (T21RS) International Conference, to be held from 5th of June – 8th of June 2024 in Rome, Italy.  It will also be the 10th Anniversary of the T21RS. We hope to see you there!

The T21RS meetings are devoted to advancing both basic and clinical science in Down syndrome and related areas. The major goals of the meeting are to 1) support the dissemination and discussion of the latest advances in Down syndrome research 2) facilitate collaboration among researchers and 3) utilize new scientific knowledge to develop improved treatments.

Thus, the Scientific Programme Committee is requesting proposals for symposia in basic, clinical, and translational research in Down syndrome.  We welcome symposium proposals from multiple disciplines, including, but not limited to, the following themes:

  • Genomic and Epigenetic Mechanisms
    Genetics, genomics, epigenetics, other -omics (transcriptome, metabolome, proteome, exposome, single-cell etc.), 3D genome organisation, multiomic modelling‌
  • Molecular and Cellular Mechanisms
    Neurobiological, immunological, metabolism, synaptic mechanisms, plasticity, neuronal networks, etc.
  • Experimental Models
    Animal models, cellular models, organoids, stem cells and reprogramming, etc.
  • Cognition and Behavior
    Clinical and preclinical studies on cognition and behaviour, intellectual disability, language, behavior, emotion, executive functions, sex-specific differences, neuropsychological evaluation tool
  • Neurodegeneration and Ageing
    Alzheimer disease in Down syndrome, neuropathology, immunosenescence, cognitive decline, etc.
  • Neurodevelopment
    Neuropathology, neurogenesis, cell proliferation and differentiation, synaptogenesis, nervous system patterning, etc.
  • Co-occurring Illnesses
    Cancer/ leukemia, psychiatric disorders, metabolic disorders, sensory disorders, cardiovascular diseases, etc.
  • Therapeutic intervention
    Pharmacological/non-pharmacological interventions, neurotherapy, preclinical drug development, experimental therapeutics, clinical trials, biomarkers
  • Diagnosis and Evaluation
    Biomarkers, neuroimaging, outcome measures
  • DS international capacity building
    Biobanking, data management/sharing, novel AI and computational approaches.
  • DS inclusivity and society
    Ethics and social aspects related to DS

We encourage both established and junior investigators to contribute to the program of the meeting. We welcome preclinical and clinical science, ranging from molecular biology to human research, and especially topics that bridge scientific disciplines. 

Instructions for symposium proposals

Please include:

  • 1.
    A descriptive symposium title.
  • 2.
    A short outline describing the topic and its relevance to the field (max. 2000 characters with spaces, about 250 words). 
  • 3.
    Four lecture titles and speaker information. *

* Please confirm that speakers can attend in person prior to the submission.

This is an international meeting, and we value a diverse pool of speakers, so please consider speakers from various geographical locations and ethnicity. Gender balance is also important. Preference will be given to proposals that include at least one presentation from a junior investigator (please note this in your outline). We also encourage to include one speaker outside the field of Down syndrome, whose research is of relevance for the Down syndrome research community.  The program committee may also modify accepted proposals for content and will reach out to proposers if needed.  

We encourage you to help us make the 2024 T21RS meeting in Rome a success! Proposals will be accepted only from T21RS members.  If you are not a T21RS member, please join at www.t21rs.org/become-a-member.

Submit your proposal before 12th of November

Submit

Yours sincerely,

Shahid Zaman

On behalf of the Scientific Program Committee,
Trisomy 21 Research Society