The hidden work of Factor-H – the story of Nelson

Nelson Echeverría is 49 years old and he is one of the HD individuals we assist. He is a wonderful person and always receives our social workers with a big smile. He lives in the outskirts of the town of Saco in the Atlántico department in Northern Colombia. He lives in very impoverished conditions and […]

Here is how you too can help! Thanks Ivan Angulo!

Everyone can make a contribution to help those most affected by Huntington’s disease. In this brief post, we wanted to thank Dr. Iván Angulo for his commitment to rare disorder research. Iván is a former colleague of Nacho who reached out to raise funds for our Venezuelan colleagues suffering from HD. He decided to raise […]

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. This prior small trial (n=6) […]

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 is largely published. Ongoing studies […]

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 selection and patient population for […]

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 the strategy is to apply […]

Session III CHDI Conference: Drs. Beth Stevens and 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. The hypothesis is that aberrant […]

Session III CHDI Conference: Drs. Gene Yeo and 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 lab has done to characterize […]

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 splicing changes in TAF1 protein, […]