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…

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.…

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…

In this 2021 course, Dr. Ignacio Munoz-Sanjuan, VP of translational biology at CHDI Foundation, speaks to the clinicians and movement disorder residents as part of a course about Huntington’s disease organized by EHDN and MDS. The seminar focuses on our current understanding of HTT biological aspects relevant to the development…

Revealing mHTT in real-time Huntington’s disease (HD) is caused by mutations in the gene encoding for the protein huntingtin (HTT), leading to accumulation of toxic mutant HTT (mHTT) aggregates. Development of therapies aiming to reduce mHTT is hindered by the lack of imaging methods to visualize mHTT in the living…

Engineered zinc finger protein transcription factors show promise in Huntington’s disease research by selectively repressing mutant HTT, affirms an article published by PerkingElmer last Thursday October, 7,

About Huntington’s disease (HD) HD is a rare autosomal dominant neurodegenerative disease that typically strikes during mid-life, between 35-55 years old, and is characterized by voluntary and involuntary motor movements, behavioral impairment and cognitive decline, leading to complete dependence, and ultimate death after a slow but unrelenting progression over two…

How the brain adapts itself to daily life situations and to internal or external insults has always been a fundamental question for science and medicine. In the case of HD, an essential quest has been to measure how the brain adapts to the presence of defective huntingtin protein in its…

From a gene mutation to a lethal disease HD is caused by a single mutation in a region of the HTT gene, located at the beginning of the gene (in exon 1), which contains a repeat sequence comprised of CAG repeats; in the normal range, people have between 17-22 repeats…

Si me hubiesen preguntado hace unos años que en el 2020 empezaríamos estudios clínicos con una terapia en pastilla que trataría la causa de la enfermedad, no me lo hubiera creído. Durante mucho tiempo, desde que empecé a trabajar como científico en la fundación CHDI, he trabajado mucho en el…