Linda Crnic Institute for Down Syndrome
The leader in scientific research benefiting people with Down syndrome

Meet the Crnic Institute Supergroup 2017 Grant Recipients

Brianne Bettcher, PhD

Alzheimer’s and Down syndrome
Investigate the correlation between biomarkers of inflammation, brain structure, and neuropsychological functioning

Ganna Bilousova, PhD

Stem cells and Down syndrome
Exploring Endothelial Progenitor Cell Defects in Down Syndrome

Zhe Chen, PhD

Neurology & Down syndrome
Study how an extra copy of chromosome 21 affects axon guidance in the brain

Angelo D’Alessandro

Proteomics of Down syndrome
Metabolic Alterations of Trisome 21

James DeGregori, PhD

Leukemia & Down syndrome
Study increase in leukemia incidence and other problems with blood cell production, including reduced immunity

Mark Dell’Acqua, PhD

Alzheimer’s disease & Down syndrome
Study the role of calcium signaling in inhibition of synapse formation by A-beta plaque in Down syndrome

Robin Dowell, PhD

Genetic understanding of Down syndrome
Understand how an extra copy of chromosome 21 affects the behavior of key proteins involved in regulating expression

Joaquín Espinosa, PhD

Genetic understanding of Down syndrome
Identify genes whose function is essential in trisomic cells yet dispensable in cells with only two copies of chromosome 21

Santos Franco, PhD

Neurons in brains of Down syndrome mice
Defects in Neurogenesis and Neuronal Migration in DS Mouse Models: Elucidating the Developmental and Molecular Mechanisms

Csaba Galambos, MD, PhD

Lung development in Down syndrome
Overexpression of anti-angiogenic genes impairs lung development in Dp16 mice

Francis J. Hickey, MD

Anesthesia & Down syndrome
Provide information to improve management of post-operative pain and sedation in children with Down syndrome

Charles A. Hoeffer, PhD

Alzheimer’s disease & Down syndrome
Test the idea that overexpression of a key gene on chromosome 21 promotes the development of Alzheimer’s disease-related neuropathology

Elena Hsieh, MD

Interferon response in Down syndrome blood cells
Understanding the Hyperactive Interferon Response in Trisomy 21 at the Single-Cell Level

Aaron Johnson, PhD

Genetic understanding of Down syndrome
Reconstitute chromosome 21 in the test tube to understand how it can be turned off by an RNA molecule

Kevin Jones, PhD

Gene regulation & Down syndrome
Test whether increasing the abundance of the BDNF protein can prevent Down syndrome pathology in a mouse model

Matthew Kennedy, PhD

Alzheimer’s disease & Down syndrome
Investigate how increased beta-amyloid production causes synapse loss in hope of finding targets for future therapies

Michael Klymkowsky, PhD

Neurodevelopment in Down syndrome
Inductive signaling in human iPSC-derived euploid and trisomic 21 cerebral organoids

Laurel Lenz, PhD

Interferon response in Down syndrome blood cells
Mechanisms responsible for increased type I IFN responses in Trisomy 21

Christopher Link, PhD

Genetic understanding of Down syndrome
Determine which genes have altered expression due to Trisomy 21

Changwei Liu, PhD

Protein expression & Down syndrome
Study the effect of USP16 overexpression on a large number of other cellular proteins to determine whether USP16 may be key to many phenotypes

Ken Maclean, PhD

Cognition & Down syndrome
Test a highly specific inhibitor of a key protein active in the Unfolded Protein Response as a potential therapeutic target for cognitive deficits

Steven Maier, PhD

Cognition & Down syndrome
Understand the contribution of inflammation in the brain to cognitive deficits of Down syndrome

Niklaus Mueller, PhD

Changes in the eye lens in Down syndrome
Malformation of the Ocular Lens in Down Syndrome Visual Impairment

Brian O’Connor, PhD

Chromosomal changes in Down syndrome cells
Examining Chromatin Regulation of Adaptive Immune Dysfunction in Down Syndrome

William Old, PhD

Protein expression & Down syndrome
Study genes with altered protein expression to develop new therapeutic strategies to alleviate issues with neurodevelopment and neurodegenerative pathologies

Bradley Olwin, PhD

Muscle development & Down syndrome
Test the idea that muscle weakness in Down syndrome is due to failure of muscle stem cells to function properly

Chad Pearson, PhD

Cell signaling in Down syndrome
A new ciliary basis for understanding Down
syndrome phenotypes

Anne-Laure Perraud, PhD

Immune dysfunction & Down syndrome
Determine the role of a chromosome 21 protein that forms an ion channel in innate immune dysfunction in Down syndrome

Tamim H. Shaikh, PhD

Autism & Down syndrome
Research genetic modifiers of autism spectrum disorders in patients with Down syndrome

Jingshi Shen, PhD

Immune system dysregulation in Down syndrome
Does trisomy 21 cause dysregulation of cytotoxic lymphocyte-mediated cell killing?

Richard Spritz, MD

Autoimmune disorders & Down syndrome
Analyze genetics of autoimmunity in Down syndrome — thyroid disease, celiac disease, type 1 diabetes and rheumatoid arthritis

Jerry Stitzel, PhD

Cognition & Down syndrome
Study gene expression changes specifically in a key group of neurons to improve our understanding of the molecular pathology of neuron loss in Down syndrome

Kelly Sullivan, PhD

Interferon Activity & Down syndrome
Defining the impact of modulating Interferon activity on cells from individuals with trisomy 21.

Ding Xue, PhD

Alzheimer’s disease & Down syndrome
Study the roles of presenilin and ubiquilin in developing treatments for Alzheimer’s disease in patients with Down syndrome

Michael Yeager, PhD

Autoimmune disorders & Down syndrome
Understand immune system disturbances in individuals with Down syndrome and drive development of newer therapies

Rui Yi, PhD

Genetic understanding of Down syndrome
Determine the effect of gene dosage imbalance on activity in trisomic embryonic stem cells