In recognition of the International Day of Huntington's Disease Awareness, we spotlight the recent visit of the Toronto chapter of the Huntington Society of Canada to the Structural Genomics Consortium (SGC) at the University of Toronto. The visit provided an opportunity for HD family members to see firsthand the progress being made in HD research at SGC under the guidance of Dr. Rachel Harding.

Understanding Huntington’s Disease

Huntington's Disease is an inherited condition that causes the progressive breakdown of nerve cells in the brain. This disease has a profound impact on those affected, making daily tasks and emotional management increasingly difficult. HD is currently considered a rare disease, affecting 1 in 7000 Canadians, with symptoms that can develop at any time, but most often begin when people are in their 30s or 40s. Unfortunately, there is no cure for this disease or drugs to slow its progression.

Dr. Rachel Harding and Her Mission

Dr. Rachel Harding is an Assistant Professor at the Department of Pharmacology and Toxicology and a Principal Investigator at SGC. Her research primarily focuses on the huntingtin protein, which is made in an expanded form in people with HD. By understanding the structure and function of both the normal and disease forms of this protein, Dr. Harding aims to uncover mechanistic insights into the disease and develop new therapeutic interventions.

Harding’s research follows the SGC’s open science model, which has facilitated the distribution of more than 400 DNA samples of different forms of the huntingtin gene to researchers globally, as well as samples of the huntingtin protein to more than 40 labs, accelerating research and enhancing collaborative efforts in the HD field.

The Visit in Detail

The day of the visit was filled with activities designed to provide insights into the ongoing HD research at SGC. The HSC chapter members were given a lab tour, attended research presentations, and participated in an interactive session. Dr. Harding and her team, including graduate students Manisha Yadav, Rebeka Fanti, and Samira Sadhegi, showcased their research.

Dr. Harding's lab is not only continuing its research on the huntingtin protein itself, but also expanding its focus to investigate other genetic factors that may influence the onset and progression of Huntington’s Disease. “This broadened approach is crucial for developing comprehensive treatment strategies”, said Manisha, a PhD student at Dr. Harding’s lab.

Rebeka and Samira, PhD students co-supervised by Dr. Aled Edwards and Dr. Harding, are conducting studies on the interactions the huntingtin protein makes with other molecules within the cells. “If we know the interacting partners of huntingtin in wild type and mutant models, we may have chances to find successful treatments for HD”, shared Rebeka. “We are working on a small part of the process but understanding which huntingtin interactions are possible modulators of disease progression could be a game changer in the field.”, Samira added.

Feedback from the lab visitors was overwhelmingly positive. They expressed appreciation for the dedication and transparency of Dr. Harding's team and noted the visit helped them understand the complexities and challenges of HD research.

The Road Ahead

The visit reinforced the importance of ongoing research and community involvement in combating HD.

Dr. Harding highlighted the dynamic growth in the field, stating, "Currently, more than 100 companies are working on new technologies for HD. Eight years ago when I started researching HD, the landscape was very different.” She emphasized the unique position of HD due to its well-defined patient population and strong community support and engagement.

This outreach story not only underscores the significant strides being made in HD research at SGC but also the powerful synergy between scientific endeavors and community engagement. This interaction serves as a vital link between the research community and those directly affected by HD, keeping scientists motivated and focused on the ultimate goal of their work.