Sie Family Research Summit on Down Syndrome

The Sie Family Research Summit, from left to right: First row: Betsy Hoffman, John J. Sie, Tom Cech, Leslie Leinwand, Michelle Sie Whitten, John Sladek; Second row: David Braddock, Hans Lehrach, Mike Yarus, Larry Gold, Enid Ablowitz, Roger Reeves; Third row: Bill Strauss, Katheleen Gardiner, Mary Lou Oster-Granite; Top row: Michael Allshouse, David Solenger,

In 2006, Anna and John J. Sie, along with their daughter Michelle Sie Whitten, organized a summit gathering some of the world’s best scientists, including Nobel Laureate Tom Cech, to explore the possibility of breakthrough research for people with Down syndrome. Many of the scientists were skeptical about just how much could be done through science to improve the lives of people with Down syndrome. But at the end of the summit, the scientists had two major reactions:

  • shock that Down syndrome was the least-funded genetic condition by the National Insitutes of Health, and
  • confidence that given recent advances in science and technology, measurable breakthrough for people with Down syndrome could be accomplished in a short period of time with appropriate levels of funding.

The scientists, who gathered for the summit held at the University of Colorado Boulder, gave the Sies hope and changed the course of the Sies’ focus to include and emphasize making a difference for people with Down syndrome through critically needed research that would allow for the best medical care.

As a result of this Summit, the Anna and John J. Sie Foundation provided “Call to Action” grants to scientists tackling the new approaches and findings inspired by the results of this Summit. The top 13 research projects, out of more than 100 proposals, were awarded a total of $1 million in grant funding.

The following projects received “Call to Action” grants:
Neural stem cells as potential for Down Syndrome Using Young and Aged Trisomic Ts65Dn Mice

Primary Investigator – Kimberly Bjugstad, Ph.D., University of Colorado Anschutz Medical Campus
Co-Primary Investigator – Kenneth N. Maclean, Ph.D.

A Systems Neurobiology Approach to Improved Cognitive Ability in Ts65Dn Mice

Primary Investigator – Diego Restrepo, Ph.D., University of Colorado Anschutz Medical Campus
Co-Primary Investigators – Roger Reeves, Ph.D., Andrew Sharp, Ph.D. and Regan Zane, Ph.D.

Gene Copy Number Variation in Down Syndrome

Primary Investigator – James Sikela, Ph.D., University of Colorado Anschutz Medical Campus
Co-Primary Investigators – Jonathan R. Pollack, M.D., Ph.D.

A Chromosome 21 Gene Responsible for Increased Susceptibility to Autoimmune Diseases in Down Syndrome

Primary Investigator – Richard Spritz, M.D., University of Colorado Anschutz Medical Campus
Co-Primary Investigator – Pamela R. Fain, Ph.D.

Neuroprotective effects of Memantine in Down’s syndrome and Alzheimer’s disease

Primary Investigator – Ann-Charlotte Granholm, Ph.D., Medical University of South Carolina
Co-Primary Investigator – Kumar Sambamurti, Ph.D.

Genetic modifiers of cognitive function of Down syndrome

Primary Investigator – Roger Reeves, Ph.D., John Hopkins University
Co-Primary Investigators – George Capone, M.D., Lynn Nadel, Ph.D., Stephanie Sherman, Ph.D. and Virginia Willour, Ph.D.

The Use of Neural Crest Stem Cells as a Model for Stem Cell replacement Therapy

Primary Investigator – Kristin Artinger, Ph.D., University of Colorado Anschutz Medical Campus

Molecular Mechanisms underlying Altered Excitatory Postsynaptic Structure and Function in Down Syndrome

Primary Investigator – Mark Dell’Acqua, Ph.D., University of Colorado Anschutz Medical Campus
Co-Primary Investigators – Timothy A. Benke, M.D., Ph.D. and Alberto Costa, M.D., Ph.D.

Ts65Dn mice as a preclinical model for investigating cognitive enhancement by the acetylcholinesterase inhibitor donepezil in Down syndrome

Primary Investigator – Kenneth Maclean, Ph.D., University of Colorado Anschutz Medical Campus
Co-Primary Investigator – W. Sue Griffin, Ph.D.

Role of Down Syndrome Cell Adhesion Molecule in Cognitive Disability

Primary Investigator – Karl Pfenninger, Ph.D., University of Colorado Anschutz Medical Campus
Co-Primary Investigator – Kenneth N. Maclean, Ph.D.

Enabling technology for intervention to the genetic disease, Trisomy 21, Down syndrome

Primary Investigator – William Strauss, Ph.D.
Co-Primary Investigator – Mike Yarus, Ph.D.

A Search for membrane RNAs that can inhibit formation of toxic amlyoid aggregates

Primary Investigator – Tadeusz Janas, Ph.D., University of Colorado Boulder
Co-Primary Investigator – Michael Stowell, Ph.D.

Characterization of the pH regulatory systems in Down syndrome: Implication for synaptic and neuronal abnormalities in the dentate gyrus of Ts65Dn mice

Primary Investigator – William Mobley, M.D., Ph.D., Stanford University
Co-Primary Investigator – Irina Grichtchenko, Ph.D.

The following researchers received Call to Action grants:

1. Kristin Artinger,  Ph.D., University of Colorado Anschutz Medical Campus
2. Kimberley Bjugstad, Ph.D., University of Colorado Anschutz Medical Campus
3. Mark Dell’Acqua, Ph.D., University of Colorado Anschutz Medical Campus
4. Ann-Charlotte Granholm, Ph.D., Medical University of South Carolina
5. Tadeusz Janas, Ph.D., University of Colorado Boulder
6. Kenneth Maclean, Ph.D., University of Colorado Anschutz Medical Campus
7. William Mobley, Ph.D., Stanford University
8. Karl Pfenninger, Ph.D., University of Colorado Anschutz Medical Campus
9. Roger Reeves, Ph.D., John Hopkins University
10. Diego Restrepo, Ph.D., University of Colorado Anschutz Medical Campus
11. James Sikela, Ph.D., University of Colorado Anschutz Medical Campus
12. Richard Spritz, Ph.D., University of Colorado Anschutz Medical Campus
13. William Strauss, Ph.D., University of Colorado Boulder
14. Tadeusz Janas, Ph.D., University of Colorado Boulder