Moskowitz, Ivan Paul MD

The fundamental question for the field of Down Syndrome (DS) basic research is how an extra copy of human chromosome 21 (HSA21) translates into the organ-specific defects observed in the DS population. Control of when cells differentiate from progenitor to differentiated cell is important for normal organ formation. We will test the hypothesis that birth defects in DS are caused by a singular mechanism causing defects in when the progenitor cells differentiate.

The fundamental question for the field of Down Syndrome (DS) basic research is how an extra copy of human chromosome 21 (HSA21) translates into the organ-specific defects observed in the DS population. Control of when cells differentiate from progenitor to differentiated cell is important for normal organ formation. We will test the hypothesis that heart defects in DS are caused by failure of a Hedgehog signaling-dependent differentiation timing switch.

The fundamental question for the field of Down Syndrome (DS) basic research is how an extra copy of human chromosome 21 (HSA21) translates into the organ-specific defects observed in the DS population. Control of when cells differentiate from progenitor to differentiated cell is important for normal organ formation. We will test the overall hypothesis that altered Hh signaling response and cardiac differentiation timing is a mechanism underlying increased CHD risk in DS.