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.
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.