What s happening in the Research World of Down syndrome? Overview of research in Down Syndrome: Guided by the NIH Down Syndrome Research Plan
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1 What s happening in the Research World of Down syndrome? Overview of research in Down Syndrome: Guided by the NIH Down Syndrome Research Plan
2 What is our common goal? Increase quality of life of those with Down syndrome Decrease health effects of extra chromosome 21 Why is this a challenge? Not a change in a single gene Increased dosage of many genes
3 Trisomy 21: increased dosage of chromosome 21 genes
4 Your needs guide the research priorities Your participation combined with new research tools help to reach those goals
5 Research Tools Models systems are critical for understanding pathophysiology and disease progression Mouse chr17 Human chr21 Mouse chr16 Mouse chr10
6 Research Tools: Mouse models Human chr21 Ts65Dn
7 Research Tools: Mouse models Human chr21 Mouse models CHD (ND)
8 Research Tools: Induced pluripotent stem cells (IPSC) Body cell
9 Reaching our goals through an iterative process Effect of chr21 gene dosage Pathophysiology Disease progression Effect of genetic variants Treatment targets Drug screening Treatment effects
10 Understanding the consequences of trisomy 21 Down Syndrome Directions National Institutes of Health Research Plan on Down Syndrome Pathophysiology and Disease Progression Down Syndrome-Related Conditions: Screening, Diagnosis, & Functional Measures Down Syndrome and Aging Treatment and Management Research Infrastructure
11 Pathophysiology and Disease Progression Use model systems to characterize: Synaptic function Vesicular trafficking Mitochondrial function Neuronal spine development APP processing and signaling pathways
12 Memory and learning systems impaired in Down syndrome: Hippocampal defect Detects and stores new information Binds together pieces of information Talks to the rest of the brain to store and update knowledge One target - hippocampus and surrounding brain cortex Helps make a map of the world in our brain. Memories are best recalled when this map is in place
13 Memory and learning systems impaired in Down syndrome: Hippocampal defect Wild type mouse Excitatory neurons DS mouse Inhibitory neurons Dierssen, 2012
14 Understand the genes involved in alteration of brain formation: e.g., DYRK1A Dierssen, 2012
15 Gardiner, 2008
16
17 Pathophysiology and Disease Progression Identify factors that explain variation in outcomes Survival to term Birth defects Cognition and behavior Alzheimer disease and aging
18 What contributes to the severity of the clinical outcomes?
19 Understand the factors that lead to variation in cognition and behavior
20 Understand the factors that lead to variation in cognition and behavior 250 participants Environmental factors Genetic factors Identify affected biological pathways Develop interventions that target imbalance
21 Environmental factors Genetic factors Identify affected biological pathways Develop interventions that target imbalance
22 Birth defects Days in NICU Hospitalization Tarek Alsaeid, MD Cincinnati Children s Hospital Medical Center Genetic factors Does congenital heart disease affect neurodevelopmental outcomes in children with Down syndrome? Identify affected biological pathways Develop interventions that target imbalance
23 Understanding the consequences of trisomy 21 Down Syndrome Directions National Institutes of Health Research Plan on Down Syndrome Pathophysiology and Disease Progression Down Syndrome-Related Conditions: Screening, Diagnosis, & Functional Measures Down Syndrome and Aging Treatment and Management Research Infrastructure
24 Down Syndrome-Related Conditions: Screening, Diagnosis, & Functional Measures Refine and develop specific outcome measures: Sensitive cognition & behavior in DS Identify change in clinical trials Measure dementia, depression, autism in the background of ID Imaging: MRI, fmri, DTI, PET new non-invasive methods
25 Down Syndrome-Related Conditions: Screening, Diagnosis, & Functional Measures
26 Understanding the consequences of trisomy 21 Down Syndrome Directions National Institutes of Health Research Plan on Down Syndrome Pathophysiology and Disease Progression Down Syndrome-Related Conditions: Screening, Diagnosis, & Functional Measures Down Syndrome and Aging Treatment and Management Research Infrastructure
27 Down Syndrome and Aging Experience of an adult clinic for DS in Madrid, Spain (Real de Asua et al., 2015)
28 Clinical Findings Early-onset aging process: Cataracts Dementia Musculoskeletal disorders Age-related cardiovascular conditions: Absent High prevalence of overweight/obesity Lack of activity in the older groups More work is needed: How to get care? How to treat?
29 Down Syndrome and Aging Identify factors associated with: Onset and progression of dementia Need for hormone therapy for older women Mortality Social needs of adult with DS and their families Treatment
30 Down Syndrome and Aging Ben Handen, PhD University of Pittsburgh School of Medicine Neurodegeneration in Aging Down Syndrome Fred Schmitt, PhD & Elizabeth Head, PhD University of Kentucky The University of Kentucky Down syndrome Aging Study: What are we learning from bench studies of the brain?
31 Understanding the consequences of trisomy 21 Down Syndrome Directions National Institutes of Health Research Plan on Down Syndrome Pathophysiology and Disease Progression Down Syndrome-Related Conditions: Screening, Diagnosis, & Functional Measures Down Syndrome and Aging Treatment and Management Research Infrastructure
32 Treatment and Management Co-occurring medical conditions Leukemia, CHD, GI problems, childhood diabetes, seizures, obstructive sleep apnea, Co-occurring psychiatric or neurobehavior conditions Autism spectrum disorder, ADHD, depression, regression Aging-associated disorders Adult CHD, obesity, dementia Cognition and daily-life functioning
33 Treatment and Management Co-occurring medical conditions Leukemia, CHD, GI problems, childhood diabetes, seizures, obstructive sleep apnea, Co-occurring psychiatric or neurobehavior conditions Anna Esbensen, PhD Cincinnati Children s Hospital Medical Center Autism spectrum disorder, ADHD, depression, Supporting Parents to Impact Child Outcomes in Down regression Syndrome Aging-associated disorders Barbara Adult Chini, CHD, MD obesity, dementia Cincinnati Children s Hospital Medical Center Cognition and daily-life functioning Optimizing Treatment of Persistent Pediatric Obstructive Sleep Apnea
34 Treatment and Management Co-occurring medical conditions Leukemia, CHD, GI problems, childhood diabetes, seizures, obstructive sleep apnea, Co-occurring psychiatric or neurobehavior conditions Autism spectrum disorder, ADHD, depression, regression Aging-associated disorders Adult CHD, obesity, dementia Cognition and daily-life functioning
35 Targeting early and life-long cognitive disabilities in DS Greater inhibition in hippocampus (excitatory/inhibitory imbalance) GABA A receptor inhibitors*** GABA B receptor inhibitors GIRK2 blockade Decreased synaptic plasticity Improved synaptic plasticity Suppressed learning & memory Improved learning & memory *** Target of new drugs in Roche & Balance Therapeutics Clinical Trials
36 Treatment and Management: Cognition Ernest Pedapati, MD Cincinnati Children s Hospital Medical Center Brain Stimulation for Cognitive Improvement in Children with Down Syndrome Alberto Costa, MD Case Western Reserve University New Clinical Study on the Effects of Memantine
37 Understanding the consequences of trisomy 21 Down Syndrome Directions National Institutes of Health Research Plan on Down Syndrome Pathophysiology and Disease Progression Down Syndrome-Related Conditions: Screening, Diagnosis, & Functional Measures Down Syndrome and Aging Treatment and Management Research Infrastructure
38 Research Infrastructure Expand research participation Conduct natural history studies Build sharable resources Lisa Kaeser, JD NICHD Model systems Overview Biobanks of why DS-Connect was created and how it can be useful to families Stephanie Santoro, MD Nationwide Children s Hospital Parent Views of the DS-Connect Registry
39 Research Infrastructure Expand research participation Conduct natural history studies Build sharable resources Model systems Biobanks Marc Lewis Down Syndrome Achieves DS Biobank
40 Critical program to identify factors that will help reduce the clinical effects of trisomy 21 Environmental factors Genetic factors Identify affected biological pathways Develop interventions that target imbalance
41 1000 participants 1000 genomes Recruitment Network Clinical Assessment Biological Samples DS-Connect LonDownS Genetic Assessment
42 1000 participants 1000 genomes Recruitment Network Clinical Assessment Trisomy 21 Research Society Biological Samples DS-Connect LonDownS Genetic Assessment
43 1000 participants 1000 genomes Recruitment Network Clinical Assessment Biological Samples Biobank Genetic Assessment International Down syndrome Genomic Consortium
44 1000 participants 1000 genomes Recruitment Network Clinical Assessment Trisomy 21 Research Society Biological Samples DS-Connect LonDownS Biobank Genetic Assessment International Down syndrome Genomic Consortium
45 What is our common goal? Increase quality of life of those with Down syndrome Decrease health effects of extra chromosome 21
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