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Spinal muscular atrophy (SMA) patients may be prone to seizures.

SMA research extends into the neuromuscular clinic.

A biochemical signature for SMA may be obtained.

Faculty

  • Ann Harris, PhD, George & Valerie Kennedy Endowed Chair
  • Christine DiDonato, PhD
  • Laura Herzing, PhD, Ann Marie and Francis Klocke, MD Research Scholar in Human Molecular Genetics
  • Michael Klüppel, PhD
  • Christopher Payne, PhD
  • Associate Faculty
  • Brad Angle, MD
  • Barbara Burton, MD
  • Joel Charrow, MD
  • Anjen Chenn, MD, PhD
  • Holly Falk-Krzesinski, PhD
  • Nina Gotteiner, MD
  • Lawrence Jennings, MD, PhD
  • Rajesh Kumar, MD
  • Craig Langman, MD
  • Susanna McColley, MD
  • Elfriede Pahl, MD, Marvin E. Wodika Research Professorship in Cardiology
  • Eugene Pergament, MD, PhD
  • Adrienne Prestridge, MD
  • Lee Shulman, MD
  • Simone Sredni, MD, PhD
  • Kimberly Watts, MD
  • Catherine Webb, MD

Research Honors

  • Christine DiDonato participated in the NIH-sponsored Therapy Development Workshop in SMA in 2010. She spoke at the International Families of SMA meeting in 2011.
  • As part of the One Northwestern initiative to further integrate cross-campus graduate training opportunities, Ann Harris led the Genetics and Genomics Cluster. Its first annual meeting was held at the research center in 2011.
  • The Harris laboratory was awarded a research grant from the Cystic Fibrosis Foundation to investigate mediators of long-range chromosomal interactions in the CFTR gene.
  • Laura Herzing was awarded a Behavioral Phenotyping Core Seed Grant by the Feinberg School.
  • Michael Klüppel joined the editorial board of The Scientific World Journal (Anatomy Section).
  • Jill Morris was appointed as program director in Neurogenetics at the National Institute of Neurological Disorders and Stroke at the NIH.
  • Elfriede Pahl, Professor of Pediatrics at the Feinberg School and medical director of the Heart Transplant Program at Children’s Memorial, was named the Marvin E. Wodika Research Professor in Cardiology.
  • Christopher Payne co-chaired and presented in the session, “Stem cell genomics, genomic reprogramming, epigenetics & systems biology” at the 2011 World Congress of Regenerative Medicine & Stem Cells.

Human Molecular Genetics

The Human Molecular Genetics Program is an internationally recognized center of translational genetic medicine, with innovative basic science generating new routes to therapy for inherited diseases.

The program’s main research goal is to translate recent advances in the molecular basis of human genetic disease into innovative and effective treatments. Five investigators are currently at work within the program.

Impact:

Genetic background can affect psychiatric conditions. Laura Herzing was co-author on the first study to show that the dosage of an imprinted gene can cause local hypo- or hyperthyroid states in the brain, leading to mood disorders.

MicroRNAs regulate expression of the cystic fibrosis transmembrane conductance regulator gene. The Harris laboratory identified miRNAs that directly target discrete sites in the CFTR untranslated region. These findings may have a direct therapeutic application.

Spinal muscular atrophy (SMA) patients may be prone to seizures. The DiDonato laboratory reported that a commonly used model in SMA research is prone to seizures, due to the integration of a transgene. This finding calls for important considerations in pre-clinical therapy development and testing for SMA.

SMA research extends into the neuromuscular clinic. Based on her group’s findings related to cardiac and autonomic problems in mouse models of SMA, DiDonato is extending this basic research to determine its clinical relevance to children who have been diagnosed with SMA.

A biochemical signature for SMA may be obtained. As part of DiDonato’s long-term effort to understand the underlying pathophysiology in SMA, her group was awarded a grant to perform biochemical profiling of SMA models, in order to identify molecular pathways.

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