Moka

Researchers are investigating the genetic causes of uncommon and unusual disease presentations, especially among children and families living outside the United States with limited access to genetic testing. The study focuses on individuals who may have genetic diseases that show unusual clinical features or family patterns, aiming to better understand these conditions using advanced genetic testing methods. It also seeks to build international collaborations and understand the cultural and psychosocial impacts of the diagnostic journey in regions lacking medical genetics services. Participants include children aged 2 years and older and their close family members, primarily from non-US locations. After screening and reviewing medical records, participants undergo physical exams and provide genetic samples through blood draws, saliva, or mouth swabs. The samples are sent to the NIH for comprehensive genetic analysis. Participants will be informed if the testing identifies known genetic conditions or gene variants that might cause disease and may be asked to provide additional samples to confirm diagnoses. Throughout the study, researchers collect detailed medical histories and family information, monitor symptoms, and evaluate genetic findings. The study's primary goal is to exhaust all available genomic techniques to determine the causes of unusual disease presentations over a 10-year period. Participants' involvement includes providing samples, completing assessments, and receiving feedback about genetic results, with local teams supporting communication about findings and follow-up as needed.