Web Desc
Biology of Down Syndrome: Impacts Across the Biomedical Spectrum
Organizer(s): Victor Tybulewicz, Elizabeth Fisher, Thomas Blumenthal and Jeanne Lawrence
Date: January 24 - 27, 2016
Location: Hilton Santa Fe Historic Plaza Hotel, Santa Fe, NM, USA
Supported by the Directors' Fund
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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.
Scholarship Deadline: September 24 2015
Discounted Abstract Deadline: September 24 2015
Abstract Deadline: October 26 2015
Discounted Registration Deadline: December 18 2015
Abstract submission is now closed. Registered attendees may bring a poster onsite. Please contact our office at +1 800-253-0685; +1 970-262-1230 or email info@keystonesymposia.org if you are interested.


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

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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 appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:

Click here to view more of these organizations
Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:

Click here to view more of these organizations

Program

Sunday, January 24 | 4:00PM - 8:00PM
Arrival and Registration
Room: Promenade


Sunday, January 24 | 6:00PM - 8:00PM
Welcome Mixer
Room: Promenade
No registration fees are used to fund alcohol served at this function.

Monday, January 25 | 7:00AM - 8:00AM
Breakfast
Room: Chamisa/Ortiz


Monday, January 25 | 8:00AM - 8:10AM
Welcome and Opening Remarks
Room: Mesa A-B

Speaker 1 of 1
* Tom Blumenthal, University of Colorado Denver, USA

Monday, January 25 | 8:10AM - 9:00AM
Keynote Address
Room: Mesa A-B
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.
Speaker 1 of 1
John Hardy, University College London, Institute of Neurology, UK
Genetic Determinants of Alzheimer’s in Down Syndrome

Monday, January 25 | 9:00AM - 11:30AM
Down Syndrome at the Cellular Level
Room: Mesa A-B
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.
Speaker 1 of 6
Joaquín M. Espinosa, Linda Crnic Institute for Down Syndrome, USA
Short Talk: Functional Genomics Approaches to Elucidate Signaling Cascades Activated by Trisomy 21

Monday, January 25 | 9:00AM - 11:30AM
Down Syndrome at the Cellular Level
Room: Mesa A-B
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.
Speaker 2 of 6
Anita Bhattacharyya, University of Wisconsin-Madison, USA
Interneuron Development in Down Syndrome

Monday, January 25 | 9:00AM - 11:30AM
Down Syndrome at the Cellular Level
Room: Mesa A-B
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.
Speaker 3 of 6
Michael F. Clarke, Stanford University, USA
Molecular Regulation of Stem Cells in Down Syndrome

Monday, January 25 | 9:00AM - 11:30AM
Down Syndrome at the Cellular Level
Room: Mesa A-B
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.
Speaker 4 of 6
Yan Liu, Nanjing Medical University, China
Short Talk: Modeling GABAergic Interneuron Deficits in Down Syndrome Using Patient iPSCs

Monday, January 25 | 9:00AM - 11:30AM
Down Syndrome at the Cellular Level
Room: Mesa A-B
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.
Speaker 5 of 6
Michael E. Yeager, University of Colorado Denver, USA
Short Talk: Phenotypic and Functional Disturbances in White Blood Cell Subsets in Down Syndrome

Monday, January 25 | 9:00AM - 11:30AM
Down Syndrome at the Cellular Level
Room: Mesa A-B
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.
Speaker 6 of 6
Jean M. Delabar, ICM, France
Short Talk: DYRK1A and Other Plasma Biomarkers for AD

Monday, January 25 | 9:50AM - 10:10AM
Coffee Break
Room: Promenade


Monday, January 25 | 11:30AM - 1:00PM
Poster Setup
Room: Mesa C


Monday, January 25 | 11:30AM - 12:30PM
On Own for Lunch


Monday, January 25 | 12:30PM - 2:30PM
OPTIONAL - Poster Session for Traumatic Brain Injury and Axo
ns
Room: Eldorado Hotel - Anasazi Ballroom


Monday, January 25 | 1:00PM - 10:00PM
Poster Viewing
Room: Mesa C


Monday, January 25 | 4:30PM - 5:00PM
Coffee Available
Room: Promenade


Monday, January 25 | 5:00PM - 7:15PM
Gene Regulation in Down Syndrome
Room: Mesa A-B
This session will feature speakers studying the effects of Down syndrome or aneuploidy more generally on gene regulation.
Speaker 1 of 6
* Victor L.J. Tybulewicz, Francis Crick Institute, UK

Monday, January 25 | 5:00PM - 7:15PM
Gene Regulation in Down Syndrome
Room: Mesa A-B
This session will feature speakers studying the effects of Down syndrome or aneuploidy more generally on gene regulation.
Speaker 2 of 6
Julie R. Korenberg, University of Utah, USA
Wiring the Brain for Down Syndrome

Monday, January 25 | 5:00PM - 7:15PM
Gene Regulation in Down Syndrome
Room: Mesa A-B
This session will feature speakers studying the effects of Down syndrome or aneuploidy more generally on gene regulation.
Speaker 3 of 6
Amber Sorenson, University of Colorado, USA
Short Talk: Utilizing Family Trios to Understand Transcription and Gene Regulation in Individuals with Down Syndrome

Monday, January 25 | 5:00PM - 7:15PM
Gene Regulation in Down Syndrome
Room: Mesa A-B
This session will feature speakers studying the effects of Down syndrome or aneuploidy more generally on gene regulation.
Speaker 4 of 6
Angelika Amon, Massachusetts Institute of Technology, USA
Effects of Aneuploidy on Hematopoiesis and Blood Malignancies

Monday, January 25 | 5:00PM - 7:15PM
Gene Regulation in Down Syndrome
Room: Mesa A-B
This session will feature speakers studying the effects of Down syndrome or aneuploidy more generally on gene regulation.
Speaker 5 of 6
Gwendolyn E. Kaeser, University of California, San Diego, The Scripps Research Institute, USA
Short Talk: Increased Genomic Mosaicism in Down Syndrome Brains with Age

Monday, January 25 | 5:00PM - 7:15PM
Gene Regulation in Down Syndrome
Room: Mesa A-B
This session will feature speakers studying the effects of Down syndrome or aneuploidy more generally on gene regulation.
Speaker 6 of 6
Tom Blumenthal, University of Colorado Denver, USA
Protein Level Changes in the Blood Reveal Altered Cell Signaling Pathways in Down Syndrome

Monday, January 25 | 7:15PM - 8:15PM
Social Hour with Lite Bites
Room: Chamisa/Ortiz
No registration fees are used to fund alcohol served at this function.

Monday, January 25 | 7:30PM - 10:00PM
Poster Session 1
Room: Mesa C


Tuesday, January 26 | 7:00AM - 8:00AM
Breakfast
Room: Chamisa/Ortiz


Tuesday, January 26 | 8:00AM - 5:00PM
Poster Viewing
Room: Mesa C


Tuesday, January 26 | 8:00AM - 11:15AM
Genetics and Epidemiology of Down Syndrome
Room: Mesa A-B
This session will focus on the use of mouse and human genetics and epidemiology to study Down syndrome.
Speaker 1 of 7
* Elizabeth Fisher, University College London, Institute of Neurology, UK

Tuesday, January 26 | 8:00AM - 11:15AM
Genetics and Epidemiology of Down Syndrome
Room: Mesa A-B
This session will focus on the use of mouse and human genetics and epidemiology to study Down syndrome.
Speaker 2 of 7
Stylianos E. Antonarakis, University of Geneva Medical School, Switzerland
Transcriptome Dysregulation and Single Cell Genomics in Trisomy 21

Tuesday, January 26 | 8:00AM - 11:15AM
Genetics and Epidemiology of Down Syndrome
Room: Mesa A-B
This session will focus on the use of mouse and human genetics and epidemiology to study Down syndrome.
Speaker 3 of 7
Michael Edward Zwick, Emory University, USA
Short Talk: Investigating the Genetic Architecture of Down Syndrome-Associated Atrioventricular Septal Defects

Tuesday, January 26 | 8:00AM - 11:15AM
Genetics and Epidemiology of Down Syndrome
Room: Mesa A-B
This session will focus on the use of mouse and human genetics and epidemiology to study Down syndrome.
Speaker 4 of 7
Victor L.J. Tybulewicz, Francis Crick Institute, UK
Mapping Dosage-Sensitive Genes Causing Cardiac Defects in Down Syndrome

Tuesday, January 26 | 8:00AM - 11:15AM
Genetics and Epidemiology of Down Syndrome
Room: Mesa A-B
This session will focus on the use of mouse and human genetics and epidemiology to study Down syndrome.
Speaker 5 of 7
Stephanie L. Sherman, Emory University, USA
Short Talk: Identifying Risk Factors for Variation in Cognitive Function in Individuals with Down syndrome

Tuesday, January 26 | 8:00AM - 11:15AM
Genetics and Epidemiology of Down Syndrome
Room: Mesa A-B
This session will focus on the use of mouse and human genetics and epidemiology to study Down syndrome.
Speaker 6 of 7
Yann Herault, Institute of Genetics and Molecular and Cellular Biology, France
Down Syndrome Mouse Models for Deciphering Cognitive Impairment


Tuesday, January 26 | 8:00AM - 11:15AM
Genetics and Epidemiology of Down Syndrome
Room: Mesa A-B
This session will focus on the use of mouse and human genetics and epidemiology to study Down syndrome.
Speaker 7 of 7
Joseph H. Lee, Columbia University, USA
Genetic and Biomarker Risk Factors for Dementia in Down Syndrome

Tuesday, January 26 | 9:40AM - 10:00AM
Coffee Break
Room: Promenade


Tuesday, January 26 | 11:15AM - 12:15PM
Lunch
Room: Chamisa/Ortiz


Tuesday, January 26 | 12:00PM - 2:30PM
Poster Session 2
Room: Mesa C


Tuesday, January 26 | 4:30PM - 5:00PM
Coffee Available
Room: Promenade


Tuesday, January 26 | 5:00PM - 7:00PM
Dysregulation of Cellular Pathways in Down Syndrome
Room: Mesa A-B
This session will focus on changes in cellular signaling pathways in Down syndrome that lead to developmental defects or to cancer.
Speaker 1 of 5
* Jeanne Bentley Lawrence, University of Massachusetts, USA

Tuesday, January 26 | 5:00PM - 7:00PM
Dysregulation of Cellular Pathways in Down Syndrome
Room: Mesa A-B
This session will focus on changes in cellular signaling pathways in Down syndrome that lead to developmental defects or to cancer.
Speaker 2 of 5
Ralph A. Nixon, New York University, Langone Medical Center, USA
Genetic Basis for Autophagy and Mitophagy Deficits in Down Syndrome (DS)

Tuesday, January 26 | 5:00PM - 7:00PM
Dysregulation of Cellular Pathways in Down Syndrome
Room: Mesa A-B
This session will focus on changes in cellular signaling pathways in Down syndrome that lead to developmental defects or to cancer.
Speaker 3 of 5
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

Tuesday, January 26 | 5:00PM - 7:00PM
Dysregulation of Cellular Pathways in Down Syndrome
Room: Mesa A-B
This session will focus on changes in cellular signaling pathways in Down syndrome that lead to developmental defects or to cancer.
Speaker 4 of 5
John Crispino, Northwestern University, USA
DYRK1A Signaling in Leukemia in Children with Down Syndrome

Tuesday, January 26 | 5:00PM - 7:00PM
Dysregulation of Cellular Pathways in Down Syndrome
Room: Mesa A-B
This session will focus on changes in cellular signaling pathways in Down syndrome that lead to developmental defects or to cancer.
Speaker 5 of 5
Roger H. Reeves, Johns Hopkins University School of Medicine, USA
Disruption of Sonic Hedgehog (Shh) Signaling in Trisomy

Tuesday, January 26 | 7:00PM - 7:00PM
On Own for Dinner


Tuesday, January 26 | 8:00PM - 10:00PM
OPTIONAL - Poster Session for Traumatic Brain Injury and Axo
ns
Room: Eldorado Hotel - Anasazi Ballroom


Wednesday, January 27 | 7:00AM - 8:00AM
Breakfast
Room: Chamisa/Ortiz


Wednesday, January 27 | 8:00AM - 11:00AM
Cognition and Alzheimer’s Disease in Down Syndrome
Room: Mesa A-B
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.
Speaker 1 of 6
* Julie R. Korenberg, University of Utah, USA

Wednesday, January 27 | 8:00AM - 11:00AM
Cognition and Alzheimer’s Disease in Down Syndrome
Room: Mesa A-B
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.
Speaker 2 of 6
Elizabeth Fisher, University College London, Institute of Neurology, UK
Trisomy of Chromosome 21 Modifies APP/Abeta Pathology

Wednesday, January 27 | 8:00AM - 11:00AM
Cognition and Alzheimer’s Disease in Down Syndrome
Room: Mesa A-B
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.
Speaker 3 of 6
William C. Mobley, University of California, San Diego, USA
Rethinking Alzheimer’s Disease Pathogenesis and Treatment in the Context of Down Syndrome

Wednesday, January 27 | 8:00AM - 11:00AM
Cognition and Alzheimer’s Disease in Down Syndrome
Room: Mesa A-B
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.
Speaker 4 of 6
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

Wednesday, January 27 | 8:00AM - 11:00AM
Cognition and Alzheimer’s Disease in Down Syndrome
Room: Mesa A-B
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.
Speaker 5 of 6
Huntington Potter, University of Colorado Denver, USA
Trisomy 21 and Other Aneuploidy in Multiple Neurodegenerative Diseases


Wednesday, January 27 | 8:00AM - 11:00AM
Cognition and Alzheimer’s Disease in Down Syndrome
Room: Mesa A-B
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.
Speaker 6 of 6
Ira T. Lott, University of California, Irvine, USA
The Neurological Basis of Dementia in Down Syndrome

Wednesday, January 27 | 9:40AM - 10:00AM
Coffee Break
Room: Promenade


Wednesday, January 27 | 11:00AM - 4:00PM
On Own for Lunch


Wednesday, January 27 | 3:30PM - 4:00PM
Coffee Available
Room: Promenade


Wednesday, January 27 | 4:00PM - 5:00PM
Panel Discussion: Disease Modeling with Stem Cells
Room: Mesa A-B


Wednesday, January 27 | 5:00PM - 7:00PM
Therapy – Present and Future
Room: Mesa A-B
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.
Speaker 1 of 5
* Roger H. Reeves, Johns Hopkins University School of Medicine, USA

Wednesday, January 27 | 5:00PM - 7:00PM
Therapy – Present and Future
Room: Mesa A-B
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.
Speaker 2 of 5
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

Wednesday, January 27 | 5:00PM - 7:00PM
Therapy – Present and Future
Room: Mesa A-B
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.
Speaker 3 of 5
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

Wednesday, January 27 | 5:00PM - 7:00PM
Therapy – Present and Future
Room: Mesa A-B
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.
Speaker 4 of 5
Jeanne Bentley Lawrence, University of Massachusetts, USA
Trisomy Silencing: New Opportunities to Advance Trisomy 21 Biology and Develop Therapeutic Strategies

Wednesday, January 27 | 5:00PM - 7:00PM
Therapy – Present and Future
Room: Mesa A-B
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.
Speaker 5 of 5
Su-Chun Zhang, University of Wisconsin-Madison, USA
Modeling Neurological Diseases Using Human Stem Cells

Wednesday, January 27 | 7:00PM - 7:30PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Room: Mesa A-B


Wednesday, January 27 | 8:00PM - 9:00PM
Social Hour with Lite Bites
Room: Promenade/Mesa Ballroom
No registration fees are used to fund alcohol served at this function.

Wednesday, January 27 | 8:00PM - 11:00PM
Entertainment
Room: 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.

Wednesday, January 27 | 9:00PM - 11:00PM
Cash Bar
Room: Mesa Ballroom


Thursday, January 28 | 10:23AM - 10:23AM
Departure


*Session Chair
†Invited, not yet responded.