Developmental Neurosciences Department Seminar Series - 12th February 2027

Sarah’s research programme seeks to discover effective disease-modifying treatments that prevent or reverse the neurodegenerative process in Huntington’s disease (HD). She leads an internationally recognised research group which follows two distinct but complementary approaches; basic bench science focusing on cellular mechanisms of neurodegeneration that can be harnessed for therapeutic targeting, and a large translational research programme in HD that is working towards finding effective disease-modifying treatments. 

Amongst her achievements, she has identified a key role for the innate immune system in the pathogenesis of HD, published the first assay of mutant HD protein in human blood cells, and led two major, international multidisciplinary research initiatives, TRACK-HD and Track-On HD. To date, the Track studies have yielded fundamental new insights into the preclinical phase of neurodegeneration in HD including identifying predictors of disease onset, progression, and neurobiological changes occurring twenty years before predicted disease onset, and her team developed new outcome measures used in a number of global phase 1/2 HD clinical trials.

Sarah has led over 30 clinical trials in HD over the last 20 years. She was global clinical PI on the world’s first successful phase 1/2b trial of an antisense oligonucleotide (NEJM 2019) and currently serves on several Scientific Advisory Boards for industry developing gene targeting and nucleic acid therapies for HD. She led a consortium defining HD in a four-stage system, similar to that used for cancer, that is transforming development of therapeutic interventions to prevent disease.

As the global lead investigator for the landmark IONIS-HTTRx (Tominersen) trials, Professor Tabrizi led the complex first in-human studies that demonstrated, for the first time, that the toxic mutant huntingtin protein - the central genetic driver of Huntington’s disease - could be robustly and dose-dependently suppressed in the human brain.

This revolutionary proof-of-principle study validated the gene-silencing approach and instilled unprecedented hope within the Huntington’s disease community worldwide.

Most recently, Professor Tabrizi’s leadership in the early phase clinical trial of the gene therapy AMT-130 has yielded a major step forward for the field - a reported 75% slowing of disease progression over 36 months - marking a monumental step toward a possible treatment for this fatal condition.*

* Read more about the gene therapy appearing to slow Huntington’s disease progression

Article: Pioneering UCL Huntington’s researcher wins major neuroscience award