Contractures, pterygia, and variable skeletal fusions syndrome

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 building a global database of 1000 people with homozygous familial hypercholesterolemia (HoFH), a rare inherited condition causing extremely high cholesterol from birth. Researchers are gathering de-identified medical data from clinics around the world to better und…

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…