The 2012-2014 Research Grant Program

TH Deficiency Fellowship
Research Award

PND is pleased to announce an award to the laboratory of Dr. Ellen Hess at Emory University to study TH deficiency.

In 2006, PND funded the laboratory of Dr. Ellen Hess to make the first ever (and still the only) mouse model of TH deficiency. This mouse has a mutation in TH that also causes TH deficiency in humans. It turns out that this model is a remarkably good model of TH deficiency because the mice have dystonia and Parkinsonism that can be treated using L-DOPA treatment.

We are excited to report that PND is providing support to begin the next step in the analysis of this mouse model, which is to determine the dopamine receptor subtype(s) and signaling defects that contribute to the abnormal movements.

Abnormal dopamine receptor regulation is known to play a role in dystonia and Parkinsonism. However, most of our knowledge of dopamine signaling pathways in low dopamine states comes from studies in adults and Parkinson’s disease.

The effect of low dopamine during development is unknown, although it is known that dopamine deprivation during early life causes different neurological problems than when dopamine becomes deficient in adulthood.

Therefore, Dr, Hess’ lab will be testing the signaling of each of the major dopamine receptor subtypes. This work is important because these experiments will identify signaling pathways that control the abnormal behaviors. Therefore these experiments will provide us with clues regarding potential targets for therapeutics.

The PND support will fund a fellowship for Samuel Rose, a doctoral student in Dr. Hess’ lab, who has made studying and understanding the TH deficient mice the centerpiece of his dissertation work.

Thank you to the Drew and Ahlers families for their fundraising efforts and for making this award possible.