Genomic Sequencing to Study Rare Disease Symptoms in Children and Families Outside the US

What this Trial Is About

Researchers are investigating the genetic causes of rare and unusual diseases in children and their families, especially focusing on people living outside the United States who have limited access to genetic testing. The study aims to explore genetic contributions to uncommon disease presentations and to build an international network to support genetic research in underrepresented populations. It also seeks to understand the social and cultural impact of delayed diagnosis in these regions. Participants include children aged 2 to 18 years and their close family members who may have genetic diseases. They will undergo screening, medical record reviews, physical exams, and provide family history and symptom information. Samples such as blood, saliva, or mouth swabs will be collected and sent to the NIH for advanced genetic testing. Participants will be informed of any known genetic diagnoses or potentially disease-causing gene variants discovered. During the study, participants will be evaluated through exams and sample collection. The research team will assess the effectiveness of genomic techniques in identifying causes of unusual diseases and support local teams in conducting genetic studies independently. The study will also explore the psychosocial effects of genetic testing access issues. The study period is planned to last up to 10 years, with ongoing communication about findings and potential follow-up testing as needed.

Genetic Analysis of Uncommon Disease Presentations in Non-US Populations