Human and Molecular Genetics Program

This program is in the early stages of formation and will be essential to integrating pediatric research and clinical activities. Genetics research at CMIER and Northwestern University will seek to increase the understanding and treatment of diseases and birth defects that affect children. Scientists whose interests lie in the area of developmental genetics in animal and human disease are being recruited to this program.

The recruitment of three new stellar scientists in the past year was significantly enhanced by the MRIC’s $2 million research endowment for the genetics program. One of these researchers, Christine DiDonato, PhD, is using a variety of biochemical approaches, as well as animal modeling and cell biology, to decipher the underlying pathophysiology of Proximal spinal muscular atrophy (SMA) – the leading genetic cause of infant death. She is investigating how and why low levels of a protein called SMN protein affect motor neurons that cause muscle weakness that leads to paralysis and ultimately death

A second investigator, Laura Herzing, PhD, is studying defects on chromosome 15 related to Rett syndrome, a progressive neurologic disorder affecting girls that has many clinical features in common with autism and Angelman’s syndrome. Jill Morris, PhD, who also joined CMIER this year, is conducting research centered on the discovery and characterization of candidate genes with goal of determining what role these genes and the proteins they encode play in the pathogenesis of mental disorders, such as schizophrenia.