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| ID | Type | Description | Link |
|---|---|---|---|
| P01HL048546 | U.S. NIH Grant/Contract | View source | |
| OHSU-HEM-98030-L |
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| Name | Class |
|---|---|
| National Heart, Lung, and Blood Institute (NHLBI) | NIH |
RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of blood cancers.
PURPOSE: The purpose of this study is to analyze in the laboratory blood and bone marrow cells from healthy volunteers or patients with Fanconi anemia, myeloproliferative disorders, or myeloma.
OBJECTIVES:
OUTLINE: Peripheral blood mononuclear leukocytes, skin fibroblasts, and marrow fibroblasts are collected for loss-of-function and gain-of-function analysis related to the Fanconi anemia complementing gene.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| microarray analysis | Genetic | |||
| polyacrylamide gel electrophoresis | Genetic | |||
| polymerase chain reaction | Genetic | |||
| protein expression analysis | Genetic | |||
| reverse transcriptase-polymerase chain reaction | Genetic | |||
| western blotting | Genetic | |||
| chromatography | Other |
| Measure | Description | Time Frame |
|---|---|---|
| Loss of function analyses | Duration of the study | |
| Proteins binding to Fanconi anemia, complementation group C (FACC) gene-product by affinity chromatography of nuclear and whole cell lysates of normal cells | Duration of the study | |
| Screening of proteins binding to FACC gene-product using monoclonal antibodies specific to signal transduction and cell cycle proteins | Duration of the study | |
| Microsequencing of unique proteins | Duration of the study | |
| Location of specific downstream block point imposed by antisense molecules using antibodies specific to signal transduction, cell cycle, or repair proteins for the FACC protein | Duration of the study | |
| Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood | Duration of the study | |
| Identification of functional defects in Fanconi anemia hematopoietic stromal cells | Duration of the study |
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DISEASE CHARACTERISTICS:
Meets 1 of the following criteria:
Diagnosis of one of the following:
Healthy volunteer, meeting 1 of the following criteria:
PATIENT CHARACTERISTICS:
PRIOR CONCURRENT THERAPY:
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The Center for Hematologic Malignancies, the Knight Cancer Institute at OHSU, and the Bone Marrow Failure clinic at Doernbecher Children's Hospital at OHSU will be centers for recruitment.
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| Name | Affiliation | Role |
|---|---|---|
| Laura Newell, MD | OHSU Knight Cancer Institute | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Knight Cancer Institute at Oregon Health and Science University | Portland | Oregon | 97239-3098 | United States |
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| high performance liquid chromatography | Other |
| immunoenzyme technique | Other |
| ID | Term |
|---|---|
| D009196 | Myeloproliferative Disorders |
| D005199 | Fanconi Anemia |
| D009101 | Multiple Myeloma |
| D054219 | Neoplasms, Plasma Cell |
| D054437 | Myelodysplastic-Myeloproliferative Diseases |
| ID | Term |
|---|---|
| D001855 | Bone Marrow Diseases |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D029502 | Anemia, Hypoplastic, Congenital |
| D000741 | Anemia, Aplastic |
| D000740 | Anemia |
| D000080984 | Congenital Bone Marrow Failure Syndromes |
| D000080983 | Bone Marrow Failure Disorders |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D020141 | Hemostatic Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D010265 | Paraproteinemias |
| D001796 | Blood Protein Disorders |
| D006474 | Hemorrhagic Disorders |
| D008232 | Lymphoproliferative Disorders |
| D007160 | Immunoproliferative Disorders |
| D007154 | Immune System Diseases |
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| ID | Term |
|---|---|
| D046228 | Microarray Analysis |
| D004591 | Electrophoresis, Polyacrylamide Gel |
| D016133 | Polymerase Chain Reaction |
| D020133 | Reverse Transcriptase Polymerase Chain Reaction |
| D015153 | Blotting, Western |
| D002845 | Chromatography |
| D002851 | Chromatography, High Pressure Liquid |
| D007124 | Immunoenzyme Techniques |
| ID | Term |
|---|---|
| D046208 | Microchip Analytical Procedures |
| D008919 | Investigative Techniques |
| D004586 | Electrophoresis |
| D002623 | Chemistry Techniques, Analytical |
| D055664 | Electrochemical Techniques |
| D021141 | Nucleic Acid Amplification Techniques |
| D005821 | Genetic Techniques |
| D015151 | Immunoblotting |
| D007118 | Immunoassay |
| D007158 | Immunologic Techniques |
| D015336 | Molecular Probe Techniques |
| D002853 | Chromatography, Liquid |
| D007150 | Immunohistochemistry |
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