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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 …
Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as…
Observational Study of Advanced Data Analytics in Genetic Conditions
Background: The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they…
Genetic Regulators of Metabolism and Development in Children
This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while est…
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…
An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAP…
Supporting Just-In-Time Consent for Prenatal Screening: The INFORM Study
This clinical trial is about prenatal genetic screening. It will test an intervention to help people make decisions about screening. The intervention is a shor…
Rett Syndrome Real World Data Observational Registry
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with t…
Pancreatic Cancer Early Detection Consortium
The purpose of the Pancreatic Cancer Early Detection (PRECEDE) Consortium is to conduct research on multiple aspects of early detection and prevention of pancr…
Partnering to Impact Testing in the Commonwealth for Hereditary Cancers (PITCH)
The goal of this clinical trial is to assess patients' knowledge and attitudes about genetic testing before and after viewing an educational video. The main qu…
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Resear…
The Molecular Basis of Inherited Reproductive Disorders
Background: \- During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. S…