Northwestern University Feinberg School of Medicine

Center for Genetic Medicine

Christine J DiDonato, PhD

Christine J DiDonato, PhD

Associate Professor of Pediatrics (Human Molecular Genetics)

Focus of Work

Academic Focus

My broad research interest lies in understanding the molecular basis of human genetic diseases and developing therapeutics for their treatment. Specifically, my research primarily focuses on neuromuscular diseases, which are those that affect muscle, the nerves that innervate muscle or the neuromuscular junction, which is the connection between the two. One way to approach this problem is to study mutations that disrupt normal neuromuscular development. One prime example is proximal spinal musc...[Read full text]My broad research interest lies in understanding the molecular basis of human genetic diseases and developing therapeutics for their treatment. Specifically, my research primarily focuses on neuromuscular diseases, which are those that affect muscle, the nerves that innervate muscle or the neuromuscular junction, which is the connection between the two. One way to approach this problem is to study mutations that disrupt normal neuromuscular development. One prime example is proximal spinal muscular atrophy (SMA). This disorder is caused by reduced levels of the survival motor neuron (SMN) protein and is characterized by degeneration of the alpha motor neurons in the spinal cord that results in muscle weakness and denervation atrophy. We have developed a translational research program for SMA. The research is multi-faceted and uses biochemistry, cell biology, molecular biology, and animal modeling. We use these approaches to decipher SMN function within nerve and muscle, the two tissues affected in SMA. We have also generated a hypomorphic allelic series of Smn mutations in mice that mimic human SMN2 splicing.[Shorten text]

Clinical Focus

Not applicable

Keywords

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Education and Certification

  • PhD: Ohio State University (1995)

Contact

773-755-6352

Stanley Manne Children’s Research Institute Box 211
225 East Chicago Avenue
Chicago IL 60611