A Genetic Lottery - a Column by Becky Field

I met my first genetic counselor to discuss testing for Huntington’s disease when I was 22 years old and we feared my dad was at risk for developing the disease. He’d stopped working and driving at the time, and the counselor said his apathy and anxiety could…

A four-week titration kit for starting on Austedo (deutetrabenazine) — an approved therapy for chorea, or involuntary muscle contractions, due to Huntington’s disease — has so far been well-received by patients in a Phase 4 clinical trial. Titration, in medicine, means starting a drug at a low dose…

My brother, Gavin, was recently diagnosed with Huntington’s disease. It has affected his sensory processing of vision, hearing, taste, smell, touch, and the proprioceptive, vestibular, and interoceptive systems. With Huntington’s disease, this sensory information becomes muddled, leading to many impairments and frustrations. Gavin has…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to SAGE-718, Sage Therapeutics’ experimental oral therapy for Huntington’s disease. The FDA gives this designation to therapies that have the potential to treat rare diseases, which are defined as conditions that affect fewer than 200,000 people…

Five years ago, I grew increasingly concerned about my brother, Gavin. He was aggressive, angry, anxious, self-neglecting, and unemployed, and he appeared to be coping poorly with his Huntington’s disease. I reached out to our local Huntington’s care adviser, who explained that most of my brother’s emotional and behavioral…

People with Huntington’s disease were found to have a widespread deficiency of selenium — a trace mineral found naturally in foods such as seafood and Brazil nuts — in their brains, revealing a new potential therapeutic target, according to researchers. Alterations in the levels of other biologically active…

Blocking immune system proteins that are part of the body’s complement cascade — which helps the immune system to fight infection — was found to protect nerve cell connections between two brain regions known to be affected in Huntington’s disease in a mouse model of the rare disorder. It…

I remember my family speaking openly about Huntington’s disease (HD) throughout my childhood. Our paternal great-grandmother had passed away before my brother and I were born, and our paternal grandfather passed when we were very young. Both had HD. Growing up, my brother and I heard stories about our…

The recent approval in the U.S. of Ingrezza (valbenazine) for adults with Huntington’s disease-associated chorea means patients now have access to a treatment option that’s likely easier to take, according to the chief medical officer of Neurocrine Biosciences, the therapy’s maker. “Ingrezza is always one capsule,…

Alternative splicing, a molecular process that’s crucial for genes being “read” to produce proteins, is dysregulated in Huntington’s disease from the early stages of neuronal development, a study indicates. Notably, splicing changes were found to be dependent on the length of CAG repeats in the HTT gene — the cause…