Researchers

Seidman, Jonathan G PHD

Harvard Medical School

INCLUDE Grants

Molecular Causes of Down Syndrome Associated Congenital Heart Disease and Other Phenotypes
R01HL151257
NHLBI
R01
Each year 5,000 Down syndrome (DS) children are born in the US. DS is caused by an additional copy of chromosome 21, which results in congenital heart disease, neurologic deficits, eye, ear, blood and metabolic abnormalities in some but not all DS patients. To understand the variable clinical manifestations of DS we will integrate clinical data with genetic and cell analyses. Results from these studies may improve insights into clinical differences between DS patients and may provide new opportunities to improve the health of DS patients.