These four days event will discuss many aspects of Down syndrome research from development to aging, including Alzheimer’s disease, and clinical trials in an informal academic setting. Topics for discussion will include molecular mechanisms, animal modeling, drug discovery and care.

Full Programme

Wednesday, June 5, 2019

9.00 – 12:00   Pre-Meeting Scientific activities. More info here –> link

12.00 – 14:00   Pre-Meeting Touristic tour. Visit to Gaudí’s Crypt in Colonia Güell. More info here –> link

Registration  and Industry sessions

Thursday, June 6, 2019

09:00 – 18:00   Registration

09:00 – 13:00   PRE-MEETING SATELLITE SYMPOSIA (parallel)


Health co-morbidities in older adults with Down syndrome – assessment and diagnosis

Health co-morbidities in children with Down syndrome


Mouse master class


14:00- 14:30   Welcome note (Mara Dierssen, President T21RS and local authorities). Presentation of the T21RS Honorary Member
                          Prof. Marie-Odile Rethoré

14:30-16:30    SCIENTIFIC SESSION 1

SESSION 1: Three of a perfect pair: stereotyped homeostatic compromises in trisomies
Chair: Pablo Helguera (INIMEC-CONICET, Argentina)

1. Metabolic dependencies of aneuploid cells. Eduardo Torres (University of Massachusetts-Worcester, USA)
2. Comparative analysis of autosomal human trisomies. Jorge Busciglio (University of California-Irvine, USA)
3. Aneuploidy-associated stress; another therapeutic target for pathophysiology in Down syndrome. Yasuji Kitabatake (Osaka University, JP)

16:30 – 18:00   Poster SESSION 1 and selected Nanosymposia with coffee

18:00 – 19:00   JEROME LEJEUNE PLENARY LECTURE: Genetics of Human Chromosome 21. Stylianos Antonarakis (University of                                          Geneva, CH)


19:00 – 22:00   Social Programme – Opening ceremony. More info here –> link

Friday, June 7, 2019

08:00 – 18:00   Registration

08:30 – 09:30   THE EMBO KEYNOTE LECTURE: Human-specific genes, neural stem cell amplification, and neocortex expansion                                             in development and human evolution, Wieland Huttner (Max Planck Institute, GER)

09:30 – 11:30    SCIENTIFIC SESSION 2 (parallel)

SESSION 2A: New disease-relevant behavioral perspective in preclinical intellectual disability studies
Chairs: Maria Martínez de Lagran (Centre for Genomic Regulation, SP) and Anna Vazquez (University Pompeu Fabra, SP)

1. Social Learning in the Ts65Dn Mouse Model of Down Syndrome: New Evidence for Hippocampal Dysfunction, Nicholas Santiago (University of California-Santa Cruz, USA)
2. Sleep and EEG abnormalities in DS mouse model, effects of single gene dosage correction. Charles Hoeffer (University of Colorado, USA)
3. Using mouse genetics to deconstruct Down syndrome phenotypes. Victor Tybulewicz (Francis Crick Institute, London, UK)

SESSION 2B:    Biomarkers for Alzheimer’s disease in Down syndrome
Chairs: Bradley Christian (University of Wisconsin, USA) and María Carmona Iragui (Hospital de la Santa Creu i Sant Pau, SP)

1. Cognitive correlates of amyloid PET in Down syndrome. Sigan Hartley (University of Wisconsin, USA)
2. Alzheimer’s-related MRI markers of cerebrovascular disease and dementia in Down syndrome. Adam Brickman (Columbia University, USA)
3. Cerebrovascular neuropathology, aging and Alzheimer disease in Down syndrome. Elizabeth Head (University of Kentucky, USA)

11:30 – 12:00    Coffee Break

12:00 – 14:00   SCIENTIFIC SESSION 3 (parallel)

SESSION 3A: New directions in human trisomy 21 stem cell research
Chair: Anita Bhattacharyya (University of Wisconsin, USA)

1. (Epi)genetic approaches towards resolving trisomy 21 gene-dosage contributions. Stefan Pinter (University of Connecticut, USA)
2. Consequences of trisomy 21 on the epigenome of different iPSC-derived cell types of the brain. Hiruy Meharena (Massachusetts Institute of Technology, USA)
3. CRISPR-enabled functional genomics approaches in Down syndrome iPSCs. Ernst Wolvetang (University of Queensland, AUS)

SESSION 3B:   Alzheimer’s disease in the context of the trisomy of Hsa21 – preclinical studies
Chair: Frances Wiseman (University College London, UK), William Mobley (University of California-San Diego, USA)

1. The role of Dyrk1A in tau pathogenesis in Down syndrome and Alzheimer’s disease. Fei Liu (New York State Institute for Basic Research in Developmental Disabilities, USA)
2. Mechanisms of neurodegeneration in mouse models of Down syndrome. Carmen Martínez-Cué (University of Cantabria, SP)
3. The role of genes other than APP in Alzheimer’s disease development. Frances Wiseman (UCL-UK).

14:00 – 15:00   Lunch break

15:00 – 16:00   T21RS general assembly

1. Welcome and opening of the General Assembly, Mara Dierssen, President T21RS
2. Presentation and Approval of Annual Report 2018 incl. Financial Report 2018, Marie-Claude Potier, secretary and Alain Dekker, treasurer T21RS.
3. Society announcements and discussion
4. Closing

16:00 – 18:00   Poster SESSION 2 and selected Nanosymposia with coffee          

18:00 – 20:00  SCIENTIFIC SESSION 4 (parallel)

SESSION 4A: Investigating Down syndrome phenotypes and mechanisms through comprehensive mouse modeling
Chair: Elizabeth Fisher (University College London, UK), Veronique Brault (Institut de Génétique et de Biologie Moléculaire et Cellulaire, FR)

1. Route 66, an exhilarating ride. Yann Herault (Institut de Génétique et de Biologie Moléculaire et Cellulaire, FR)
2. Understanding gene-phenotype relationship of skeletal abnormalities in Down syndrome using several mouse models. , Randall Roper (Indiana University-Purdue University Indianapolis, USA)
3. A new, humanized mouse model of Down syndrome. Roger Reeves (Johns Hopkins University School of Medicine, USA)

SESSION 4B: Cognitive outcomes in children with Down syndrome
Chair: Anna Esbensen (Cincinnati Children’s Hospital Medical Center, USA) and Lisa Jacola (St Jude Children’s Research Hospital, USA)

1. Neurocognitive outcomes for survivors of childhood leukemia with Down syndrome. Lisa Jacola (St Jude Children’s Research Hospital, USA)
2. Cognitive profiles in children with Down syndrome. Silvia Lanfranchi (University of Padova, IT)
3. Relationship between executive functioning and behavior in children with Down syndrome. Anna Esbensen (Cincinnati Children’s Hospital Medical Center, USA)

21:00                 GALA DINNER. More info here –>link

Saturday, June 8, 2019

09:00 – 18:00  Registration

08:30 – 09:30   PLENARY LECTURE 3: Alzheimer’s disease mechanisms and therapeutics.  Li-Huei Tsai (Massachussets Institute of
                            Technology, USA)

09:30 – 11:30  SCIENTIFIC SESSION 5 (parallel)

SESSION 5A: Modifications of autophagy-lysosomal-endosomal pathways in Down syndrome and other neurodegenerative diseases
Chair: Marie Claude Potier (ICM,  FR) and Eric Hamlett (Medical University of South Carolina, USA)

1. Dysfunction of the Autophagy-Lysosomal Pathway as a common mechanism of neurodegeneration. Steve Finkbeiner (University of California- San Francisco, USA)
2. Neuronal lysosomal dysfunction releases exosomes harboring APP C-terminal fragments and unique lipid signatures. André Miranda (University of Minho, PRT)
3. Excess synaptojanin 1 contributes to place cell dysfunction and memory deficits in the aging hippocampus in Down syndrome. Catherine Marquer (Columbia University, USA)

SESSION 5B: Language Outcome Measures for Treatment Studies
Chair: Len Abbeduto (University of California-Davis, USA), Laura Del Hoyo (University of California-Davis, USA)

1. Measuring spoken language to evaluate treatment efficacy for Down syndrome. Len Abbeduto (University of California-Davis, USA)
2. Early language and communication indicators of response to treatment. Angela John Thurman (University of California-Davis, USA)
3. Semantic verbal fluency as an early diagnostic tool of Alzheimer’s disease in Down syndrome. Rafael de la Torre (IMIM-Hospital del Mar Medical Research Institute, SP)

11:30-12:00     Coffee break


This years’ symposium primarily intends to have an interactive discussion between the speakers and the audience.  To facilitate the interaction, English-Spanish and Spanish-English translations will be provided. This symposium is organized by the Science and Society Committee of the T21RS.

T21RS Committee for Science & Society: Peter Paul De Deyn (University Medical Center Groningen, NL) (Chairman), Alain Dekker (University Medical Center Groningen, NL), Juan Fortea (Fundació Catalana Síndrome de Down, SP), Sebastian Videla (Fundació Catalana Síndrome de Down, SP), Lotta Granholm (University of Denver, USA), Cindy Lemere (Brigham and Women’s Hospital, Harvard Medical School, USA)

11:45   Welcome: Peter De Deyn (Chairman of the T21RS Committee for Science & Society)

12:00   Parent-reported needs for  development of research on Down syndrome (10 minutes presentation + 20 minutes debate)
Hampus Hillerstrom (LumindRDS, USA).
Results from the parents’ surveys on knowledge and personal experiences towards Down syndrome studies. Conducted by LumindRDS in the USA and Fondation Lejeune in the European Union.

12:30   Clinical studies (10 minutes presentation + 20 minutes debate)
Juan Fortea (Sant Pau Hospital, Spain).
General overview of clinical studies and what we can expect for the future. Future clinical trials on Alzheimer’s disease will be discussed. The voices of families and associations are encouraged

13:00 Lunch break and Meet the Scientist – More info here –> link
During lunchtime, individuals with Down syndrome, their families and caregivers will have the opportunity to discuss and ask questions to junior researchers about their work and other aspects of research. For young investigators, it will be and apportunity to get to know individuals with Down syndrome and their families.

13:45   Participation in research: pros and cons. How to involve families in research? (30 minutes debate)
Peter De Deyn (University Medical Center Groningen, The Netherlands)
Discussion with the audience about the needs and targets for research on Down syndrome. What is the point of view of family members and caregivers about participating in research?

14:15   Ethics: autonomy of people with Down syndrome (10 minutes presentation + 20 minutes debate)
Jesús Florez (University of Cantabria, Fundación Iberoamericana Down21, Spain)
How can we promote autonomy in people with Down syndrome? What should -and should not- expect from this autonomy?

14:45  Human Rights Assembly. Fundació Catalana Síndrome de Down, SP

15:00  Summary and closure. Peter De Deyn (University Medical Center Groningen, The Netherlands)

See the full Programme for family associations here: –> English version |  Spanish version

15:30 – 17:30   SCIENTIFIC SESSION 6 

SESSION 6: The Role of Inflammation and NGF dysfunction in cognitive decline and Alzheimer’s disease pathology in Down syndrome
Chair: Jorge Busciglio  (University of California-Irvine, USA), Florencia Iulita (Université de Montreal, CN)

1. Inflammation and NGF deregulation across the life span in Down syndrome. Florencia Iulita (Université de Montreal, CN)
2. Molecular and cellular mechanisms of degeneration in Down syndrome neurons: a link between ABeta pathological changes, inflammation and NGF dysmetabolism. Maria Lioudyno (University of California-Irvine, USA)
3. Analysis of biomarkers of cognitive decline and neurodegeneration in plasma and CSF in a DS cohort. Juan Fortea (Fundació Catalana Síndrome de Down and Hospital San Pau, SP)

17:30 – 19:00   Poster SESSION 3 and selected Nanosymposia with hors d’oeuvres

19:00 – 20:00   Meet the Experts Sessions: To be determined  (parallel)
                              Meet the Editor: Jane Godsland (Editor-in-Chief of The Lancet Child and Adolescent Health)   

20:00 – 21:00  Education Committee session: How should we study Down syndrome: pros and cons of mouse models and human iPSCs”

T21RS Committee for Education & Training: Renata Bartesaghi (University of Bologna, IT) (Chair), Carmen Martinez-Cué (University of Cantabria , SP), Tom Blumenthal (Linda Crnic Institute for Down Syndrome, USA), Tarik Haydar (Boston University, USA)

Sunday, June 9, 2019

08:30 – 09:30   PLENARY LECTURE 4: Alzheimer’s disease in Down syndrome: update from the LonDowns consortium. Andre Strydom                                (University College London, UK)

09:30 – 10:15   Annette Karmiloff-Smith and Michael Harpold Thesis Awards Ceremony (Renata Bartesaghi)
10:15 – 10:30   Montserrat Trueta Award (Mara  Dierssen and Katy Trias)

10:30 – 11:00    Coffee break

11:00 – 13:00    SCIENTIFIC SESSION 7 (parallel)

SESSION 7A: Leukemia in Children with Down syndrome: why does it happen and what can we do about it?
Chair: John Crispino (Northwestern, USA), Sebastien Malinge (Telethon Kids Institute, AU)

1.Targeting constitutive Ras/Mapk pathway activation in Down syndrome associated B Cell leukemia. Sebastien Malinge (Telethon Kids Institute, AU)
2.Trisomy 21 silencing in hematopoietic and neural cells: new insights and prospects. Jeanne Lawrence (University of Massachusetts-Worcester, USA)
3. HMGN1 in phenotypes of trisomy 21 hematopoietic stem/progenitor cells and leukemia. Andrew Lane (Dana Farber Cancer Institute, USA)

SESSION 7B: Metabolic defects in Down syndrome: from periphery to the brain
Chair: Eugenio Barone (Sapienza University of Rome, IT) and Marzia Perluigi (Sapienza University of Rome, IT)

1. Plasma and urinary metabolomic profiles of children with Down syndrome. Maria Chiara Pelleri (University of Bologna, IT)
2. Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors. Kelly Sullivan (University of Colorado, USA)
3. Alzheimer’s disease biomarkers in neuron-derived extracellular vesicles and cognitive decline in Down syndrome. Aurelie Ledreux (University of Denver, USA)

13:00 -14:00    Lunch

14:00-16:00     SCIENTIFIC SESSION 8

SESSION 8: Correction of circuit specific GABAergic over-inhibition and dendritic alterations in Down syndrome
Chair:  Floriana Costanzo (Child Neuropsychiatric Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IT) and Jean Maurice Delabar (Paris Sorbonne Université, CNRS, FR)

1. GABA neurotransmission in a mouse model of Down syndrome, Trevor G. Smart (University College London, UK)
2. Cortical inhibitory circuits in Down syndrome, Javier Zorrilla de San Martin (ICM, INSERM, CNRS, ICM,FR)
3. Modulation of dendritic α5-GABAA receptors rescues impaired NMDA receptor activacion in a mouse model of Down syndrome, Jan Michael Schulz (University of Basel, Switzerland)

16:00-16:30     Coffee break

16:30-17:00      Melissa Parisi: updates on US NIH funding (ABC-Connect, INCLUDE)
17:00-17:30      Stephane Hogan: long-term Horizon Europe budget in neuroscience and cognition


17:30-19:30      SCIENTIFIC SESSION 9

SESSION 9:  Endpoints for clinical trials
Chair: Diana Bianchi (NIH-NICHD, USA) and Alain Dekker ((University Medical Center Groningen, NL)

1. Clinical trials in children with Down syndrome, the experience of the Jerome Lejeune Institute.  Clothilde Mircher (Institut Jerome Lejeune, FR)
2. Endpoints for clinical trials from the Horizon 21 Consortium. Bessy Benejam (Fundació Catalana Síndrome de Down, SP)
3. Endpoint selection for AD trials in DS. Mike Rafii (University of Southern California, USA)
4. Down Syndrome Clinical Trials Netword (LuMind)


19:30                  CLOSING CEREMONY. Poster awards presentation with aperitif

20:30                  END OF MEETING