First branchial cleft anomaly

This study collects medical information and samples from people with hearing, balance, taste, smell, voice, speech, or language disorders. Researchers aim to use this data for future studies and to find candidates for other research. Participants receive standard care, and no exp…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…