CHDI conference session V - updates on the DBS clinical trial

CHDI conference session V - updates on the DBS clinical trial

Jan Vesper, Dusseldorf University Jan Vesper spoke on the status update of the recently completed European randomized-controlled DBS trial of the globus pallidus (GP) for the treatment of HD (HD-DBS study). Prior work done in a pilot study in 2014 showed a significant reduction in chorea scores of the UHDRS.…
CHDI conference session V - clinical updates from Uniqure AMT-130 program

CHDI conference session V - clinical updates from Uniqure AMT-130 program

David Cooper David Cooper from Uniqure spoke about the current status and future plan for the first gene therapy trial for HD involving an AAV5 expressing a microRNA targeting HTT human exon-1 sequences, termed AMT-130. David described the preclinical work conducted to support the clinical trial data, in work that…
CHDI Conference Session V - Clinical trial updates

CHDI Conference Session V - Clinical trial updates

Drs. Lauren Boak and Peter McColgan (Roche) Drs. Lauren Boak and Peter McColgan discussed additional results from the tominersen Generation-HD1 phase III trial. Lauren spoke about the on-treatment and post-treatment effects of tominersen, both during the Phase III study and other studies involving this drug, with the focus of dose…
CHDI Conference Session IV - Drs. Peter McColgan & Jonas Dorn (Roche), Sarah Tabrizi & Jeff Long

CHDI Conference Session IV - Drs. Peter McColgan & Jonas Dorn (Roche), Sarah Tabrizi & Jeff Long

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…
CHDI Conference Session IV - Drs. Jim Rosinski and Aline Delva

CHDI Conference Session IV - Drs. Jim Rosinski and Aline Delva

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…
Sesión III CHDI Conferencia: Dres. Beth Stevens y Leslie Thompson

Sesión III CHDI Conferencia: Dres. Beth Stevens y Leslie Thompson

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.…
Sesión III CHDI Conferencia: Dres. Gen Yeo y Irina Antonijevic

Sesión III CHDI Conferencia: Dres. Gen Yeo y Irina Antonijevic

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…
CHDI's conference (Session II) - Seminars by Drs. José Lucas and Michael Rape

CHDI's conference (Session II) - Seminars by Drs. José Lucas and Michael Rape

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…
CHDI's conference (Session II) - Seminars by Drs. Sandrine Humbert, Rafaelle Iennaco & Baljit Khakh

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

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.…
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