This is an incurable genetic disease which is most often due to an anomaly of the IT5 gene situated on the short arm of chromosome 4. Little by little, this neuronal degeneration affects cognitive and motor functions, with symptoms usually starting between 40 and 50 years of age: abnormal involuntary gestures, balance problems, and dementia.
A better understanding of the mechanisms of the disease
- Reference laboratory: I-Stem
An I-Stem team is working on modeling neurologic pathologies, including development and utilization of the progenies of hES and iPS carrying the causative mutation of Huntington’s disease as a cellular model of this pathology. In particular, the group is looking for genes whose expression is modulated by the presence of this mutation. Some of these genes may in fact lead to a better understanding of the molecular mechanisms of the disease, and a search for potentially therapeutic molecules in collaboration with the High Troughput Screening (HTS) group.
Development program for gene therapy
- Reference laboratory: Genethon
In collaboration with Dr Bachaud-Levy (Henri-Mondor Hospital, Créteil, France) and Gilles Bonvento (Mircen) Genethon is developing a gene therapy program for Huntington’s disease which involves direct delivery into the brain of a growth factor which is defective in these disorders, using a lentivirus that is capable of crossing the blood-brain barrier.