Not provided
Not provided
Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| UL1TR001082 | U.S. NIH Grant/Contract | View source |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Linda Crnic Institute for Down Syndrome | UNKNOWN |
| National Center for Advancing Translational Sciences (NCATS) | NIH |
| GLOBAL Down Syndrome Foundation | UNKNOWN |
The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.
The purpose of this study is to provide qualified and approved researchers with access to biological samples and health information to answer specific research questions. This project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions such as Alzheimer's disease, congenital heart defects, autoimmune disorders, autism, and some forms of leukemia.
Participation includes a blood draw, a mouth swab, and allowing researchers to look at your health information yearly for the next 5 years. Optional procedures include providing a urine and/or stool sample and taking part in the study for a longer time frame.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Those with trisomy 21 | People aged 6 months to 89 years old who have some form of trisomy 21. | ||
| Controls | People aged 6 months to 89 years old who do not have trisomy 21. These persons can be related to someone with some form of trisomy 21 but do not have to be related. |
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Number of Participants and Controls Enrolled in Biobank | Create biobank of blood cells and plasma, saliva, mouth swab, urine, stool, and induced pluripotent stem cells (iPSC) cells for use in approved research projects. | 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| Number of Clinical Records Available for Approved Research Purposes | Create a database of clinical information to pair with biological samples listed above. | 5 years |
| Multidimensional Sample Characterization |
Not provided
Inclusion Criteria:
Anyone 6 months to 89 years old who:
Exclusion Criteria:
Not provided
Not provided
Individuals with Down syndrome, individuals related to someone with Down syndrome or of the general population who do not have a relationship to Down syndrome.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Angela Rachubinski, PhD | Contact | (303) 724-7366 | dsresearch@cuanschutz.edu | |
| Constance Brecl, BA | Contact | dsresearch@cuanschutz.edu |
| Name | Affiliation | Role |
|---|---|---|
| Joaquin Espinosa, PhD | Linda Crnic Institute for Down Syndrome at the University of Colorado Denver | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Linda Crnic Institute for Down Syndrome at the University of Colorado Denver | Recruiting | Denver | Colorado | 80045 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31722205 | Derived | Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, Khanal S, Butcher ET, Estrada BE, Rachubinski AL, McWilliams JA, Minter R, Dimasi T, Colvin KL, Baturin D, Pham AT, Galbraith MD, Bartsch KW, Yeager ME, Porter CC, Sullivan KD, Hsieh EW, Espinosa JM. Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome. Cell Rep. 2019 Nov 12;29(7):1893-1908.e4. doi: 10.1016/j.celrep.2019.10.038. |
| Label | URL |
|---|---|
| The Human Trisome Project™ | View source |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
Not provided
Not provided
| Anna and John J. Sie Foundation |
| UNKNOWN |
Not provided
Not provided
Not provided
blood, saliva, mouth swab, urine (optional), stool (optional)
Characterize biological samples with multidimensional cellular and molecular analyses to generate the most thoroughly characterized set of samples from individuals with Down syndrome in the world.
| 5 years |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |