Much of today’s efforts in HD research are focused on lowering huntingtin protein in early stages of the disease. Ideally, clinicians could begin treating gene-positive individuals before the onset of symptoms entirely, but this would require novel ways to evaluate safety and efficacy before symptoms occur. Researchers at Johns Hopkins Medicine, including 2013 HDSA Human Biology Project Fellow, Jun Hua, are developing biomarkers that do exactly that.
In a study recently published in the journal Brain, the Hopkins group used noninvasive fMRI (fMRI) brain imaging techniques to measure blood volume in the brains of HD mice. Previous studies have shown that brain blood volume increases with onset of HD symptoms in humans. HD causes metabolic changes in the brains of affected individuals, and it is predicted that increased brain volume is one way the body compensates to bring more oxygen and energy to brain tissue. In this research study, researchers used fMRI to show that lowering harmful huntingtin helped restore elevated cerebral blood volume to normal levels. This noninvasive way to track the effects of disease modifying therapies in pre-manifest HD could facilitate development of new HD treatments and help determine the right time to begin them.
W.H.O. Experts Set Guidelines Around Ethics of Gene Editing
The World Health Organization (W.H.O.) recently assembled a panel of experts to set guidelines around human gene editing. While CRISPR Cas-9 DNA editing has been a hot-button topic in scientific news over the past decade, this two-year long deliberation of the ethics of human genome modification came in the wake of the unusual case of He Jiankui, a scientist in China whose ethically questionable genetic alteration of human embryos spurred debate in the research community.
The panel deliberated over questions including DNA edits that could be passed between generations, as well as equitable access to the benefits of gene editing across the globe. Additionally, HD was featured in hypothetical scenarios around the use of gene-editing to treat brain disease, because there are specific ethical considerations around how long it could take to prove such treatments successful.
Happy Birthday, Katie Moser!
In celebration of her 40th birthday, the New York Times published a follow-up article on Katie Moser, whose genetic testing story and involvement in the HD community were initially featured on the front page of The Times in 2007. The most recent update on Katie’s story chronicles the ups and downs of her genetic status, the adventures and activism it has inspired, participation in research trials, and more. Katie celebrated her birthday with family and friends in an event that featured performances, raffles, and a live auction to raise money for HDSA. Although festivities took place last night, you can still participate in Katie’s fundraiser here.