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This meeting took place in 2016

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Biology of Down Syndrome: Impacts Across the Biomedical Spectrum (A4)

Organizer(s) Victor Tybulewicz, Elizabeth Fisher, Thomas Blumenthal and Jeanne Lawrence
January 24—27, 2016
Hilton Santa Fe Historic Plaza Hotel • Santa Fe, NM USA
Discounted Abstract Deadline: Sep 24, 2015
Abstract Deadline: Oct 26, 2015
Scholarship Deadline: Sep 24, 2015
Discounted Registration Deadline: Dec 18, 2015

Supported by the Directors' Fund

Summary of Meeting:
Down syndrome (DS) arises from an extra copy of an entire human chromosome, 21 (Hsa21) (trisomy 21), resulting in a wide constellation of phenotypes; in addition to learning and memory deficits, there are greatly increased risks for congenital heart defects, early-onset Alzheimer’s disease and leukemia. DS is a common disorder, with a prevalence of around 1 in 750 births, a frequency that is not diminishing despite the availability of pre-natal diagnosis. It is the leading genetic cause of cognitive impairment. DS is a disorder of gene dosage for one or more of the ~300 genes on Hsa21, affecting many different systems, with variable severity and expressivity. Research into DS has recently come of age with the development of sophisticated cell and animal models, novel biological findings and clinical trials of therapeutics. Despite this growing research into DS and the number of people affected by it, there is no regular scientific meeting devoted to the syndrome. This interdisciplinary Keystone Symposia meeting on DS brings together experts from disparate research fields (genetics, development, stem cell biology and neuroscience), all focused on the effects of trisomy 21. The goals of the meeting are to: 1) Provide an interdisciplinary meeting covering all aspects of DS research from genetics and cell biology using animal models to human studies and therapy; 2) Encourage interactions and new interdisciplinary collaborations in DS research; 3) Set standards for animal models, cellular assays and clinical phenotyping relevant to DS; 4) Provide a forum in which academia and industry can interact in order to promote translation of research toward therapy.

View Scholarships/Awards
No registration fees are used to fund entertainment or alcohol at this conference

Conference Program    Print  |   View meeting in 12 hr (am/pm) time

The meeting will begin on Sunday, January 24 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Wednesday, January 27 with a closing plenary session from 17:00 to 20:00, followed by a social hour and entertainment. We recommend return travel on Thursday, January 28 in order to fully experience the meeting.


Arrival and Registration

Welcome Mixer
No registration fees are used to fund alcohol served at this function.




Welcome and Opening Remarks

Mesa A-B
* Tom Blumenthal, University of Colorado Denver, USA

Tim Harris, Tim's Place and Tim's Big Heart Foundation
Opening Remarks

Keynote Address
The Keynote Address will be given by a speaker not currently working in Down Syndrome research, but whose work on neurodegenerative disease is very relevant to Down Syndrome.

Mesa A-B
John Hardy, University College London, Institute of Neurology, UK
Genetic Determinants of Alzheimer’s in Down Syndrome

Down Syndrome at the Cellular Level
This session will focus on the use of induced pluripotent stem cells to model aspects of Down syndrome and on the alterations in stem cell biology that occur in the syndrome.

Mesa A-B
Joaquín M. Espinosa, Linda Crnic Institute for Down Syndrome, USA
Short Talk: Functional Genomics Approaches to Elucidate Signaling Cascades Activated by Trisomy 21

Anita Bhattacharyya, University of Wisconsin-Madison, USA
Interneuron Development in Down Syndrome

Michael F. Clarke, Stanford University, USA
Molecular Regulation of Stem Cells in Down Syndrome

Yan Liu, Nanjing Medical University, China
Short Talk: Modeling GABAergic Interneuron Deficits in Down Syndrome Using Patient iPSCs

Michael E. Yeager, University of Colorado Denver, USA
Short Talk: Phenotypic and Functional Disturbances in White Blood Cell Subsets in Down Syndrome

Jean M. Delabar, ICM, France
Short Talk: DYRK1A and Other Plasma Biomarkers for AD

Coffee Break

Poster Setup

Mesa C
Poster Viewing

Mesa C
On Own for Lunch

OPTIONAL - Poster Session for Traumatic Brain Injury and Axons

Eldorado Hotel - Anasazi Ballroom
Coffee Available

Gene Regulation in Down Syndrome
This session will feature speakers studying the effects of Down syndrome or aneuploidy more generally on gene regulation.

Mesa A-B
* Victor L.J. Tybulewicz, Francis Crick Institute, UK

Julie R. Korenberg, University of Utah, USA
Wiring the Brain for Down Syndrome

Amber Sorenson, University of Colorado, USA
Short Talk: Utilizing Family Trios to Understand Transcription and Gene Regulation in Individuals with Down Syndrome

Angelika Amon, Massachusetts Institute of Technology, USA
Effects of Aneuploidy on Hematopoiesis and Blood Malignancies

Gwendolyn E. Kaeser, University of California, San Diego, The Scripps Research Institute, USA
Short Talk: Increased Genomic Mosaicism in Down Syndrome Brains with Age

Tom Blumenthal, University of Colorado Denver, USA
Protein Level Changes in the Blood Reveal Altered Cell Signaling Pathways in Down Syndrome

Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Poster Session 1

Mesa C



Poster Viewing

Mesa C
Genetics and Epidemiology of Down Syndrome
This session will focus on the use of mouse and human genetics and epidemiology to study Down syndrome.

Mesa A-B
* Elizabeth Fisher, University College London, Institute of Neurology, UK

Stylianos E. Antonarakis, University of Geneva Medical School, Switzerland
Transcriptome Dysregulation and Single Cell Genomics in Trisomy 21

Victor L.J. Tybulewicz, Francis Crick Institute, UK
Mapping Dosage-Sensitive Genes Causing Cardiac Defects in Down Syndrome

Michael Edward Zwick, Emory University, USA
Short Talk: Investigating the Genetic Architecture of Down Syndrome-Associated Atrioventricular Septal Defects

Stephanie L. Sherman, Emory University, USA
Short Talk: Identifying Risk Factors for Variation in Cognitive Function in Individuals with Down syndrome

Yann Herault, Institute of Genetics and Molecular and Cellular Biology, France
Down Syndrome Mouse Models for Deciphering Cognitive Impairment

Joseph H. Lee, Columbia University, USA
Genetic and Biomarker Risk Factors for Dementia in Down Syndrome

Coffee Break


Poster Session 2

Mesa C
Coffee Available

Dysregulation of Cellular Pathways in Down Syndrome
This session will focus on changes in cellular signaling pathways in Down syndrome that lead to developmental defects or to cancer.

Mesa A-B
* Jeanne Bentley Lawrence, University of Massachusetts, USA

Ralph A. Nixon, New York University, Langone Medical Center, USA
Genetic Basis for Autophagy and Mitophagy Deficits in Down Syndrome (DS)

Colleen Jackson-Cook, Virginia Commonwealth University, USA
Short Talk: Increased Frequencies of Age-Related, Trisomy 21-Associated Somatic Chromosomal Instability and Epigenetic Alterations Unmasked Using an Isogenic Trisomic/Disomic Mosaic Model System

John Crispino, Northwestern University, USA
DYRK1A Signaling in Leukemia in Children with Down Syndrome

Roger H. Reeves, Johns Hopkins University School of Medicine, USA
Disruption of Sonic Hedgehog (Shh) Signaling in Trisomy

On Own for Dinner

OPTIONAL - Poster Session for Traumatic Brain Injury and Axons

Eldorado Hotel - Anasazi Ballroom



Cognition and Alzheimer’s Disease in Down Syndrome
This session will focus on Alzheimer's disease in Down syndrome. By age of 50 about half of people with DS have clinical dementia whose pathology resembles AD.

Mesa A-B
* Julie R. Korenberg, University of Utah, USA

Elizabeth Fisher, University College London, Institute of Neurology, UK
Trisomy of Chromosome 21 Modifies APP/Abeta Pathology

William C. Mobley, University of California, San Diego, USA
Rethinking Alzheimer’s Disease Pathogenesis and Treatment in the Context of Down Syndrome

Esha Massand, Birkbeck University of London, UK
Short Talk: Individual Differences in the Neurophysiology of Infants with Down Syndrome May Predict Protective/Risk Markers for Subsequent Alzheimer’s Disease

Huntington Potter, University of Colorado Denver, USA
Trisomy 21 and Other Aneuploidy in Multiple Neurodegenerative Diseases

Ira T. Lott, University of California, Irvine, USA
The Neurological Basis of Dementia in Down Syndrome

Coffee Break

On Own for Lunch

Coffee Available

Panel Discussion: Disease Modeling with Stem Cells

Mesa A-B
Therapy – Present and Future
This session will focus on potential therapeutic approaches for Down syndrome phenotypes. The speakers will include those actively engaged in clinical trials, as well as speakers studying novel methodologies that could be applied in the future for therapy.

Mesa A-B
* Roger H. Reeves, Johns Hopkins University School of Medicine, USA

Xavier Liogier D'Ardhuy, F. Hoffmann-La Roche AG, Switzerland
Early Clinical Development of a GABA-A Negative Allosteric Modulator for Treatment of Intellectual Disability in Down Syndrome

Faycal Guedj, Tufts Medical Center, USA
Short Talk: Analysis of Human and Murine Transcriptomes to Search for Dysregulated Pathways in Down Syndrome as Targets for Treatments

Jeanne Bentley Lawrence, University of Massachusetts, USA
Trisomy Silencing: New Opportunities to Advance Trisomy 21 Biology and Develop Therapeutic Strategies

Su-Chun Zhang, University of Wisconsin-Madison, USA
Modeling Neurological Diseases Using Human Stem Cells

Meeting Wrap-Up: Outcomes and Future Directions (Organizers)

Mesa A-B
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Promenade/Mesa Ballroom
Entertainment is not subsidized by conference registration fees nor any U.S. federal government grants. Funding for this expense is provided by other revenue sources.

Mesa Ballroom



*Session Chair †Invited, not yet responded.

We gratefully acknowledge support for this conference from:

Directors' Fund

These generous unrestricted gifts allow our Directors to schedule meetings in a wide variety of important areas, many of which are in the early stages of research.

Click here to view all of the donors who support the Directors' Fund.

We gratefully acknowledge the generous grant for this conference provided by:

National Institutes of Health

Grant No. 1R13HD087043-01

The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention of trade names, commercial practices, or organizations imply endorsement by the U.S. Government.

We gratefully acknowledge additional in-kind support for this conference from those foregoing speaker expense reimbursements:

F. Hoffmann-La Roche Ltd.

We appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:


Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:

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