Biomedical research to improve
the lives of people
with Down syndrome
Tom Blumenthal, PhD
Executive Director
Anna and John J. Sie Professor in Genomics
University of Colorado School of Medicine
A network of affiliate organizations working together
to improve the lives of people with Down syndrome
When the whole is greater than the sum of the parts
Dr. Tom Blumenthal
Executive Director
Dr. Fran Hickey
Director
Michelle Sie Whitten
President and CEO
Dr. Huntington Potter
Director
Working in coordination with its affiliate organizations, the Crnic Institute is
constantly updated of developments at the medical care facilities
and the community at large.
Our strategy
To attract the best and brightest from other
research fields and induce them to perform
research on Down syndrome
We achieve this by creating competitive funding
mechanisms to support the best science and the
best scientists at every stage of their career
We have created the following funding
mechanisms:
1. Grand Challenges Grants for Principal Investigators
2. Doctoral and Post-doctoral Fellowships
3. Undergraduate Internships
The first academic home for Down syndrome research
34 research teams, 100+ scientists, one common goal:
Improve the lives of people with Down syndrome
Intramural
Blumenthal
Espinosa
Potter
Biochemistry and Mol. Genetics
Pharmacology
Neurology
Gardiner
Yeager
Pediatrics
Pediatrics/Bioengineering
Extramural
University of Colorado Anschutz Medical Campus
Pediatrics
Biochemistry and Mol. Genetics
Shaikh McLean
Spritz
Hickey
Pharmacology
Immunology
Cel. Dev. Biology
DeGregori
Liu
Kennedy
Perraud
Pearson
Johnson
Hansen
Sullivan
Neurology
Dermatology
DellAcqua
Bettcher
Bilousova
Porter
University of Colorado Boulder
Molecular, Cellular and Developmental Biology
Integrative Physiology
Dowell
Yi
Klymkoswky
Link
Psychology
Old
Olwin
Chen
Hoeffer
Maier
Junge
Xue
Jones
Stitzel
The largest geographical cluster of scientists
investigating Down syndrome
5 Research Teams within the Institute
29 Additional Research Teams
2 campuses
11 academic departments
Anschutz Medical Campus
34 miles
Boulder Campus
Collaborative, Multidisciplinary, Integrative
Alzheimers research at the Crnic Institute
Huntington Potter, PhD
Currently performing clinical
trials to test the efficacy of the
protein GMCSF in the treatment
of Alzheimers disease
Brianne Bettcher
Investigating the role of
inflammation in cognitive
decline and progression of
Alzheimers disease.
Matthew Kennedy, PhD
Investigates how increased betaamyloid production causes loss of
neuron function to find targets for
future therapies
Ding Xue, PhD
Studies the role of the protein
presenilin in the production of
beta-amyloid for the design of
novel treatments for Alzheimers
in people with Down syndrome
Mark DellAcqua, PhD
Studies the role of of calcium
signaling in inhibition of neuronal
function by beta-amyloid plaques
in Down syndrome
Charles
AA..Hoeffer,
Charles
Hoeffer,
PhD
Charles
Hoeffer,Ph.D.
Ph.D.
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Alzheimers disease-related
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These research projects have the potential to reveal novel approaches for
early detection and treatment of Alzheimers disease.
Research on cognition, autism and brain function
at the Crnic Institute
Steven Maier, PhD
Understand the contribution of
inflammation in the brain to
cognitive deficits in Down
syndrome
Zhe Chen, PhD
Study how trisomy 21 affects
the formation of neuron axons
in the brain
Ken
aclean, Ph.D.
Ken
Maclean,
PhD
KenM
Maclean,
Ph.D.
Cognition
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Downsyndrom
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Test
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Jerry Stitzel, PhD
Investigate gene expression
changes in a key set of
neurons strongly affected
in people with Down syndrome
Kevin Jones, PhD
Investigate the impact of the
protein BDNF in the brain
pathology of Down syndrome
using mouse models
Tamim Shaikh, PhD
Research on genetic
modifiers of autism spectrum
disorders in people with
Down syndrome
cognitive deficits in Down
syndrome
All these research projects aim to identify molecular and cellular mechanisms
important for cognition.
Research on the immune system and
autoimmune conditions at the Crnic Institute
Anne-Laure Perraud, PhD
Investigates the role of the gene
TRMP22 on chromosome 21 in
innate immune dysfunction in Down
syndrome
Michael Yeager, PhD
Investigates the role of the
gene AIRE on chromosome
21 in immune dysfunction
and pulmonary hypertension
Richard Spritz, PhD
Investigates novels genes driving
autoimmunity in Down syndrome
thyroid disease, Type I diabetes,
rheumatoid arthritis and vitiligo.
Kelly Sullivan, PhD
Investigates the Interferon
molecules, potent regulators
of the immune system, in
people with Down syndrome
Kirk Hansen, PhD
Investigates the metabolic changes
that accompany inflammation and
immune dysregulation in Down
syndrome
Chris Porter, MD
Investigates changes in the
types and numbers of
different immune cells in
Down syndrome
These research projects could illuminate new ways to diagnose and treat autoimmune
disorders in people with Down syndrome.
Stem cell research at the Crnic Institute
Bradley Olwin, PhD
Investigates the role of muscle
stem cells in dysfunction of the
muscular-skeletal system in
Down syndrome
Christopher Link, PhD
Investigates changes in gene
expression caused by trisomy
21 in stem cells and neurons
derived from these cells
William
ld,
WilliamOOOld,
PhD
William
ld,Ph.D.
Ph.D.
Ganna Bilousova, PhD
Employs a new method to
generate stem cells from
individuals with Down
syndrome
Protein
Expression
&&Down
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Protein
Expression
Downsyndrom
syndrom
Employs
proteomics
technology
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ith
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in stem cells
Michael Klymkowsky, PhD
Employs neuronal organoids
derived from stem cells to
investigate changes in neuron
activity caused by trisomy 21
Stem cell research is of fundamental importance, because stem cell dysfunction
could impact many of the conditions associated with Down syndrome.
Cancer and Leukemia research
at the Crnic Institute
James DeGregori, PhD
Studies problems with blood cell
production in individuals with Down
syndrome to understand the
increase risk of leukemia and
immune dysfunction
Chad Pearson, PhD
Investigates differences in how
cells with trisomy 21 sense their
environment and undergo
proliferation
Rui Yi, PhD
Investigates the effect of trisomy
21 on gene expression control in
blood cells, with a focus on
oncogenes that could drive
leukemia development
Joaqun Espinosa, PhD
Investigates novel non-toxic
therapeutic strategies
for the treatment of leukemias
showing increased incidence in
people with Down syndrome
The goal of these projects is not only to reveal why there is an increased risk of leukemia
and decreased risk of solid tumors, but also to identify and test gentler,
non-toxic therapies.
Advanced genetic and genomics research
at the Crnic Institute
Robin Dowell, PhD
Employs advanced genomics
approaches to understand how
trisomy 21 leads to changes
in gene activity across the
genome
Tom Blumenthal, PhD
Investigates changes in the
levels of thousands of proteins in
the blood of people with Down
syndrome, which could reveal
new diagnostics and
therapeutics
Aaron Johnson, PhD
Studies the way the genome of
cells with trisomy 21 is wrapped
around proteins and how this
affects gene expression
Changwei
Liu,
Ph.D.
Changwei
Liu,
PhD
Changwei
Liu,
Ph.D.
Protein
Expression
syndrom
ee
Protein
Expression&
&Down
Down
syndrom
Investigates
the
gene
USP16
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ay
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ther USP16 maybekeyto manyphenotypes
with a role in stem cell function
The goal of these projects is to gain better mechanistic understanding of how trisomy 21
affects cellular and organismal behavior at the molecular level,
with the potential for far reaching impacts in the clinic.
Future Directions
1. To continue to support strong basic science on all
aspects of Down syndrome
2. To translate key findings made by our scientists into
novel diagnostics and therapeutic applications
3. To develop alliances with government and private
agencies to develop precision medicine approaches
for Down syndrome
4. To increase our educational and outreach missions
and help disseminate the results of the latest
research among the community.
