Peter McColgan & Jonas Dorn Peter McColgan from Roche spoke about the digital monitoring of cognitive and motor symptoms from the longitudinal study Generation HD1 in the tominersen trials. Peter described the digital monitoring platform employed during this therapeutic study (n=798 individuals). The platform was also used in the natural…

Jim Rosinski Jim Rosinski from the CHDI Foundation spoke about the -omics strategy at CHDI Foundation to identify early biomarkers of disease progression, with a focus today on the early analysis of the CSF and plasma samples derived from the HD Clarity study using the Somalogics platform. The goal of…

Beth Stevens Beth Stevens from HHMI and the Broad Institute spoke about her work in protecting synapses in the context of HD and the role of the immune system and microglial cells of the brain in modulating synaptic pruning in the adult brain, which enables the ‘sculpting’ of synaptic circuits.…

Dr. Gene Yeo from UCSD spoke about his recent work on targeting RNA degradation using Crispr-Cas13d. His lab focused on RNA binding proteins (RBPs) as regulators of gene expression, and as drug targets. He has developed methods to systematically study RBP functions, such as the enhanced eCLIP method, which his…

Dr. José Lucas from the Center for Molecular Biology Severo Ochoa in Madrid spoke about this recent work in the role of mHTT in altered splicing and adenylation of mRNAs in HD. Jose started by describing his pioneering work in tau splicing alterations in the HD brain. He also described…

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…