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Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to le…
Thymus Regeneration, Immunorestoration, and Insulin Mitigation Extension Trial
The TRIIM-X trial is an expanded pilot clinical study that will evaluate a personalized combination treatment regimen for thymus regeneration. The thymus is a …
APOL1 Genetic Testing in African Americans: Exploring Attitudes About Genetic Risk to Improve Comprehensive Kidney Risk Assessment for Patients and Families
Recent breakthroughs in medical genetics have discovered that a portion of kidney failure affecting the Black community is mediated by coding variants in a gen…
A Longitudinal Cohort Study to Identify Clinical and Blood Markers of Early Pancreas Cancer
Identifying biomarkers of early pancreatic ductal adenocarcinoma (PDAC) could facilitate screening for individuals at higher than average risk and expedite the…
Investigating Hereditary Risk In Thoracic Cancers (INHERIT)
The purpose of this research study is to learn more about the inherited risk for developing lung cancer.
Molecular Basis of Early Childhood Obesity Programming by Intrauterine Growth Restriction
The molecular mechanisms underlying developmental programming of childhood obesity remain poorly understood. Here, the investigators address major questions ab…
Effects of Treatments on the Microbiome in Healthy Volunteers and Patients With Atopic Dermatitis
Background: \- Atopic dermatitis, or eczema, is a chronic skin disorder. Patients sometimes have infections with S. aureus bacteria. Researchers want to study…
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disor…
Follow-up With Preimplantation Genetic Testing Patients
The main purpose of this study is to perform longitudinal evaluations of clinical outcomes and personal perspectives following utilization of preimplantation g…
Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes
The research goal of this study is to obtain CD34+ hematopoietic stem cells (HSC) from peripheral blood and/or bone marrow, and Mononuclear Cells (lymphocytes …
Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-org…
Functional Consequences of CYP2C19 Variants on Limonene Metabolism in Humans
The investigators will examine whether a non-invasive screening tool for CYP2C19 genetic variants can be developed by measuring limonene metabolism.