Latest Discoveries

These latest Huntington’s disease discoveries were made possible by funding from the Hereditary Disease Foundation.

Abdellatif Benrais, PhD

Is it possible to restore brain cells? It may look that way. Abdellatif Benrais, PhD, University of Rochester, a 2020 Hereditary Disease Foundation grant recipient from the lab of Dr. Steve Goldman, and colleagues build on previous work that showed adding biological molecules to the brains of mice that model Huntington’s disease can restore brain cells. In their new work, they show the newly formed neurons in these HD mice integrate with existing cellular networks within the brain and contribute to the improvement of movement behavior. This work may help us better understand how the brain can create new neurons, potentially offering a regenerative therapeutic strategy to replace brain cells that are lost in HD. This is another exciting step in research!

Read article here.

Abdellatif Benrais, PhD
University of Rochester

X. William Yang, MD, PhD

X. William Yang, MD, PhD, David Geffen School of Medicine at UCLA, HDF Scientific Advisory Board member, who received an HDF research grant 2024 and the 2014 Leslie Gehry Prize for Innovation in Science, published new findings in the prestigious journal Cell that gets us closer to understanding how genetic modifiers that control Huntington’s disease onset also contribute to somatic instability – the perpetual expansion of the disease-causing CAG repeat. This new work is a comprehensive assessment of genes that regulate somatic instability in mice, providing a powerful new platform for testing potential drugs aimed at these genes. It also shows that targeting genes that control somatic instability could help delay onset and slow progression of Huntington’s disease, providing great promise for this approach as others advance it toward the clinic.

Read press release here.

Link to the published paper here.

X. William Yang, MD, PhD
David Geffen School of Medicine at UCLA

Judith Frydman, PhD

HDF Scientific Advisory Board member Judith Frydman, PhD and 2021-funded Postdoctoral Fellow Piere Rodriguez-Aliaga, PhD, Stanford University, have a publication in Science focused on how mutations in the protein folding machine TRiC found in different patients is linked to a new set of neurodegenerative disease of unknown origin, which they have named “TRiCopathies.” The importance of this study is that it shows that TRiC and protein folding is crucial for the brain development. It also provides a genetic base to many patients diagnosed with idiopathic brain malformations and seizures.

Read article here.

Judith Frydman, PhD
Stanford University

Piere Rodriguez-Aliaga, PhD

Piere Rodriguez-Aliaga, PhD, 2021-funded HDF Postdoctoral Fellow, and HDF Scientific Advisory Board member Judith Frydman, PhD, Stanford University, have a publication in Science focused on how mutations in the protein folding machine TRiC found in different patients is linked to a new set of neurodegenerative disease of unknown origin, which they have named “TRiCopathies.” The importance of this study is that it shows that TRiC and protein folding is crucial for the brain development. It also provides a genetic base to many patients diagnosed with idiopathic brain malformations and seizures.

Read article here.

Piere Rodriguez-Aliaga, PhD
Stanford University

Andrew S. Yoo, PhD

Andrew S. Yoo, PhD, Washington University School of Medicine, St. Louis, MO, funded in 2021 with an HDF research grant, published work in December of 2023 that identified a molecule that can help improve cellular waste disposal in brain cells from people with HD. In HD, cellular waste builds up and can clog up cellular functions. Finding ways to clear cellular waste can improve overall brain cell health, keep brain cells healthier longer, and possibly prevent them from dying.
Read article here.

Andrew S. Yoo, PhD
Washington University School of Medicine, St. Louis, MO

James Mackay, PhD

James Mackay, PhD, University of British Columbia, Vancouver, Canada, a 2021 HDF postdoctoral fellowship recipient, published work in March of 2024 examining how HD affects electrical firing between different brain regions. Changes in these electrical signals could contribute to imbalances at the synapse – the tiny space between neurons where brain cells communicate with one another. This could help us better understand several ongoing clinical trials that are focused on HD-related changes at the synapse.
Read article here.

James Mackay, PhD
University of British Columbia, Vancouver, Canada

Terence Gall-Duncan, PhD

Terence Gall-Duncan, PhD, The Hospital for Sick Children (SickKids), Toronto, Ontario, Canada, who received an HDF postdoctoral fellowship in 2022, published his work in October of 2023 that identified a molecule responsible for adding CAG repeats over time to the huntingtin gene, a process called somatic expansion. Gaining control of molecules responsible for somatic expansion holds promise for slowing or stopping symptoms of HD.
Read article here.

Terence Gall-Duncan, PhD
The Hospital for Sick Children (SickKids), Toronto, Ontario, Canada

Carolina Gubert, PhD

Carolina Gubert, PhD, The Florey Institute of Neuroscience and Mental Health/University of Melbourne, Australia, who received an HDF postdoctoral fellowship in 2021, published findings in February of 2024 that dietary changes can improve behavior, thinking, and gastrointestinal function of mice that model HD. By increasing dietary fiber, HD mice had many improvements. This work suggests small, daily changes that focus on overall health could improve healthspan for those living with HD.
Read article here.

Carolina Gubert, PhD
Florey Institute of Neuroscience & Mental Health/University of Melbourne, Australia

Rivka Dikstein, PhD

Rivka Dikstein, PhD, Weizmann Institute of Science, Rehovot, Israel, funded with an HDF research grant in 2019, published work in February of 2024 showing that drugs her team identified could be taken orally to selectively lower expanded huntingtin and improve HD symptoms in mice that model HD. This could advance current approaches in clinical trials that use oral drugs to lower both copies of huntingtin.
Read article here.

Rivka Dikstein, PhD
Weizmann Institute of Science, Rehovot, Israel

Click here to learn about our current grants we fund.

To learn more about Huntington’s disease research, visit HDBuzz. HDBuzz is a trusted source for high-quality Huntington’s disease research news and clinical trial data, written in plain language, by HD clinicians and scientists. Their goal is to help HD families understand the latest HD science.

Latest Discoveries

These latest Huntington’s disease discoveries were made possible by funding from the Hereditary Disease Foundation.

Abdellatif Benrais, PhD

X. William Yang, MD, PhD

Judith Frydman, PhD

Piere Rodriguez-Aliaga, PhD

Andrew S. Yoo, PhD

James Mackay, PhD

Terence Gall-Duncan, PhD

Carolina Gubert, PhD

Rivka Dikstein, PhD

Click here to access HDBuzz.