Huntington’s researcher wins 2023 Arvid Carlsson Award

Sarah Tabrizi is a researcher at the University College London in the UK

Margarida Maia, PhD avatar

by Margarida Maia, PhD |

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Sarah Tabrizi, MD, PhD, a researcher at the University College London (UCL) in the U.K., is the winner of this year’s Lund University Arvid Carlsson Award for her work in understanding Huntington’s disease and developing treatments to slow or stop its progression.

The prize is given to researchers who are doing groundbreaking work that can help develop treatments for diseases. It’s named in recognition of the late Arvid Carlsson, a pharmacologist at Lund University, Sweden, who conducted Nobel Prize-awarded research that led to a mainstay treatment for Parkinson’s disease.

This year’s ceremony took place after Tabrizi gave an award lecture at the inaugural Lund Spring Symposium, May 24-26 at Lund University. The lecture, titled “New genetic therapies for neurodegenerative disease,” focused on potential treatments for Huntington’s and other types of neurodegenerative diseases.

Tabrizi, who directs the Huntington’s Disease Centre at the UCL Queen Square Institute of Neurology and is the joint head of the UCL department of neurodegenerative disease, doubles as a principal investigator at the UCL UK Dementia Research Institute.

Her work is focused on understanding the mechanisms behind neurodegeneration and on translating findings into treatments to prevent or reverse Huntington’s-associated neurodegeneration.

“I am delighted to see Sarah recognized for her pioneering research to advance therapies for this devastating disease, and her continued dedication to her mission to find a treatment underpins everything that we think is important in translational neuroscience here at the Institute of Neurology,” Michael Hanna, MD, PhD, who directs the UCL Queen Square Institute of Neurology, said in a university press release.

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Delving into Huntington’s disease

Huntington’s occurs due to excessive CAG repeats of three DNA building blocks in the HTT gene, which provides instructions for producing the huntingtin protein that’s believed to help neurons develop and work well.

A healthy HTT gene contains 10-35 repeats, but people with Huntington’s have 40 or more, leading to an abnormally long and toxic huntingtin protein being produced. This causes symptoms such as uncontrolled movements and cognitive and emotional problems.

Tabrizi’s work has increased knowledge about the preclinical stage of Huntington’s, including predictors of disease onset and changes that occur in the brain years before symptoms come on.

Her research has helped to understand the mechanisms behind certain Huntington’s genetic modifiers, genes or genetic variants that can increase or reduce a condition’s severity without necessarily causing the disease themselves. A genetic modifier may represent a promising therapeutic target.

Tabrizi has taken part in several Huntington’s clinical trials, including a Phase 1/2 study (NCT02519036) of IONIS-HTTRx, now tominersen, the first treatment under clinical testing to target the disease’s underlying cause, and Enroll-HD (NCT01574053), the world’s largest observational study of Huntington’s that’s collecting information from more than 20,000 people worldwide on the disease’s natural course. As part of an international consortium, Tabrizi also helped develop the first-ever staging system for Huntington’s to cover the entire disease spectrum.