News

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Being less affected by loss is predictive of apathy in people with Huntington’s disease (HD), a new study has found. The study, “Insensitivity to Loss Predicts Apathy in Huntington’s Disease,” was published in the journal Movement Disorders. Apathy — the feeling of indifference, where a person just doesn’t care —…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

Tiny fatty (lipid) particles can be used to enhance the delivery of gene editing tools, such as CRISPR-Cas9, to targeted cells and considerably improve their ability to possibly treat human disorders like Huntington’s disease, researchers reported. Their study, “Fast and Efficient CRISPR/Cas9 Genome Editing In Vivo Enabled by…

Psychiatric and cognitive symptoms in Huntington’s disease share genetic traits with psychiatric disorders and intelligence, respectively, according to a study. These findings suggest that current treatments used for depression and psychotic symptoms in the overall population may also be able to treat these symptoms in Huntington’s patients. The…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

Patients at a pre-symptomatic stage of Huntington’s disease have marked difficulties recognizing and understanding negative and neutral mental states of other individuals, regardless of gender, a study has found. The results, “Effects of Stimulus-Related Variables on Mental States Recognition in Huntington’s Disease,” were published in the…

Eligible Huntington’s disease patients would likely participate in a gene therapy trial regardless of the study design, but they are more inclined toward those with less invasive interventions and without a placebo group, a questionnaire-based study suggests. The results may be useful to design more patient-centered clinical trials assessing…

Changes in the shape of a brain region called the neostriatum — involved in motor and cognitive control — are associated with specific clinical features in people with Huntington’s disease at different stages of the disorder, a study has found. The results, “Striatal morphology and neurocognitive dysfunction…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…