Christine J DiDonato

Personal profile

Research Interests

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.

Not applicable

Education/Academic qualification

PhD, Ohio State University

… → 1995

Research interests

Developmental Genetics
Developmental Neurobiology
Gene Regulation
Gene Therapy
MicroRNA
Molecular Genetics
Muscular Dystrophy
Neuroscience
Pharmacokinetics
Spinal Muscular Atrophy

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Grants

12 Active
18 Finished

Long-term effect of troponin activators for spinal muscular atrophy

DiDonato, C. J.

National Institute of Neurological Disorders and Stroke

6/1/17 → 5/31/20

Project: Research project

Long-term effect of troponin activators for spinal muscular atrophy

DiDonato, C. J.

National Institute of Neurological Disorders and Stroke

6/1/17 → 5/31/20

Project: Research project

skeletal muscle activators as potential modulators of muscle weakness in SMA

DiDonato, C. J.

Cure Spinal Muscular Atrophy

5/1/17 → 6/1/20

Project: Research project

Northwestern University Interdepartmental Neuroscience Postbaccalaureate Research Education Program (NU IN-PREP)

DiDonato, C. J.

Northwestern University, National Institute of General Medical Sciences

5/1/17 → 4/30/22

Project: Research project

Spinal Muscular Atrophy: Inducing SMN Expression

DiDonato, C. J.

National Institute of Neurological Disorders and Stroke

6/15/13 → 5/31/20

Project: Research project