Day: March 1, 2022

CHDI’s conference (Session II) – Seminars by Drs. Sandrine Humbert, Rafaelle Iennaco & Baljit Khakh

Sandrine Humbert from INSERM, Grenoble Institute for Neurosciences, spoke about the role of wild type HTT in brain development. Sandrine postulates that a significant component of HD pathogenesis involves the loss of function of normal HTT function(s), which involve, among other roles, the assembly of molecular complexes, including those transported by microtubules, and in the […]

Session I of CHDI’s therapeutic conference: Seminars by Gill Bates & Judith Frydman

Gill Bates from University College London, described her work on incomplete splicing of the Htt gene, and the implications of these findings for therapeutic development. The splicing product she identified led to the production of a pure exon-1 protein, which in the context of the CAG expansion, is very toxic. Her recent work has been […]

Session I of CHDI’s therapeutic conference: Seminars by Darren Monckton & Steve McCarroll

Darren Monckton from the University of Glasgow spoke about the phenomenon of somatic instability (SI) in the context of disease progression. He described the impact of rare polymorphisms (present in 1.4% of individuals) in HTT CAG tract where some CAA sequence variants can affect the age of onset, using a large 3500 samples from the […]