This observational study at Boston Children's Hospital aims to understand the genetic causes of rare, poorly understood, or undiagnosed conditions. Researchers hope to identify new disease-causing genes and better describe these conditions, which could lead to improved diagnosis and treatment in the future. You may be eligible if you have a known or uncertain rare diagnosis that might have a genetic cause, or if you are a relative of someone with such a diagnosis. The study is looking to enroll up to 10,000 participants. The study's success will be measured by identifying rare or new genetic changes causing disorders and by describing the symptoms of these conditions over 1 to 10 years.

Study design

This is an observational study aiming to enroll up to 10,000 participants. It does not involve a specific intervention or drug.

What's involved

You would provide DNA and tissue samples (if available), and allow access to your medical records and genomic data. You would also provide relevant medical information, family history, and blood/saliva samples.

Compensation

Not stated in the trial record.

Follow-up

The study aims to identify genetic variants and characterize clinical features over 1 to 10 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.