A Genetic Lottery
— Rebecca Field

ProQR Therapeutics’ experimental therapy QRX-704 significantly reduced levels of the toxic huntingtin (HTT) protein clumps that fuel Huntington’s disease in a mouse model of the disease, a study showed. The therapy, an antisense oligonucleotide (ASO) designed…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the…

Clumps of protein resulting from HTT mutations, the underlying cause of Huntington’s disease, form distinct structures in different parts of the cell, according to detailed imaging analysis. The findings suggest these clumps form by different mechanisms and may…

The perception of time is impaired in people with symptomatic Huntington’s disease in its early stages — but not in patients without symptoms, a study revealed. These findings suggest that time perception impairment may be used as a…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis,…

Treatment with valbenazine significantly lessened chorea — a motor symptom characterized by jerky, unpredictable, and involuntary movements — in people with Huntington’s disease in the Phase 3 clinical trial KINECT-HD, according to an announcement from the therapy’s…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify…

NeuExcell Therapeutics has entered into a research deal with Spark Therapeutics to advance the development of a safe and effective neuroregenerative gene therapy for Huntington’s disease. Under the terms of the agreement, Spark, a member of…

A Phase 1/2 trial evaluating Wave Life Science’s investigational therapy WVE-003 for Huntington’s disease has started dosing patients, the company has announced. The SELECT-HD trial (NCT05032196), underway in clinical sites in Australia, Germany, Poland, and…

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind.

The interaction between FAN1 and MLH1 — two DNA repair proteins known to be genetic modifiers of Huntington’s disease — protects against further expansion of disease-causing CAG repeats, according to a study using human and mouse models of…