CPMG Research Protocol
We are studying the molecular genetics of disorders across a wide spectrum of clinical domains with the goal to identify genes responsible for the development of constitutional disorders.
Specific Aims:
- Enroll adult and pediatric patients with constitutional disorders into a genetic biobank linked with clinical information.
- Identify genes and genomic disorders associated with constitutional disorders.
- Analyze the clinical impact of returning a genetic diagnosis to participants.
The objective of this protocol is to recruit affected patients, family members, and healthy controls in order to permit genomic analysis including genetic linkage studies, association studies, and direct search for mutations in candidate genes. When applicable, we will study the clinical effects of returning actionable genetic findings.
Rascal training
Before you start, complete the following Rascal training courses:
- TC0019 HIPAA: Health Insurance Portability Accountability Act Research Training Course
- TC0087 Human Subjects Protection Training
- TC0088 Research with Minors
- TC0098 Clinical Research Coordinator Mandatory Training
- TC0096 FDA Requirements Of Sponsor-Investigator Studies
- TC3050 The Informed Consent Process: Assuring that it is Valid and Informed
- TC3450 Good Clinical Practice (GCP) Training
- TC3700 Research Coordinator Training: Informed Consent in Genetic Research