The difficult news of clinical setbacks from Roche and Wave have turned the recent weeks into an emotional rollercoaster for the HD Community. But amidst the disappointment, Andrew Joseph’s latest article in Stat News provides a recap of what we know from Roche and Wave so far and reminds us there is much to be hopeful for in the future of HD Research. New therapeutic innovations from uniQure, Novartis, Wave, and Triplet Therapeutics show promise of clinical impacts to come through their ongoing to commitments to the HD Community.
Detecting different forms of Huntingtin protein
Huntington’s disease is caused by a CAG repeat expansion in the beginning of the huntingtin gene. This causes biological machinery to stall in the process of converting the genetic code (DNA) into biologically active molecules (proteins). The result is huntingtin proteins of varied length—some full-length huntingtin proteins, and some smaller huntingtin fragments that can combine into harmful clusters and interfere with brain function. Previous researchers have developed methods to measure huntingtin levels in biological samples, but these approaches have been unable to differentiate full-length huntingtin proteins from shorter huntingtin fragments that are more toxic to the brain. A team of American and British collaborators led by Dr. Gillian Bates at University College London published a recent study in Brain Communications in which they looked for new ways to identify and quantify huntingtin proteins of different lengths. The study’s success in measuring these individual forms of huntingtin protein in mouse models could be useful to improve our understanding of the progression of Huntington’s disease, as well as to evaluate the impacts of huntingtin-lowering treatments in pre-clinical studies and clinical trials
“R is for Rare:” Ashley Pesi shares her HD Journey
In a recent episode of “R is for Rare,” Ashley Pesi, social worker, PhD candidate, mother, HD caretaker, and gene positive HD advocate, discussed the ins and outs of Huntington’s Disease. As part of a podcast that amplifies voices of the rare disease community, Ashley discusses the invisible struggles of HD, her family’s difficult realization of their genetic status, and the purpose she’s found in her involvement in the HD Community and HDSA National Youth Alliance. To hear Ashley share her HD journey, listen in to Episode 9 of “R is for Rare” here.
