News

Symptoms of depression significantly affect the quality of life of people with Friedreich’s ataxia (FA), a study has found.  The study, “Health-related quality of life and depressive symptoms in Friedreich ataxia,” was published in the journal…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

Online forums have markedly altered how patients, caregivers and healthcare professionals communicate and connect. Even when miles apart, individuals can establish supportive relationships, share experiences and information, and sometimes simply vent. Bionews Services, a leading online health, science and research publication company, has been rolling out its…

Normalizing the cardiac levels of frataxin via gene therapy or an alternative strategy could be an effective treatment for cardiac symptoms in patients with Friedreich’s ataxia (FA), as suggested by three-dimensional (3D) heart tissues made in the lab, a study suggests. The study, “Correlation between frataxin…

Friedreich’s ataxia can occur as a late-onset disease, with symptoms appearing after age 50, a case-report shows. Late-onset cases lack the typical symptoms and disease progresses slowly, highlighting the need for genetic testing in cases of older patients showing difficulty coordinating movements or other atypical presentations to confirm the diagnosis. The…

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,…

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…

An individual’s ability to control facial muscles might be better than other tools commonly used to measure disease progression among patients with advanced Friedreich’s ataxia (FA), a study says. The findings in “Oral mobility reflects rate of progression in advanced Friedreich’s ataxia,” were published recently in the Annals…

Removal of the genetic defect that causes Friedreich’s ataxia (FA) in heart cells derived from a patient with heart disease associated with FA reversed the cells’ abnormal molecular profile, a study shows. This gene-editing strategy could be a useful tool for regenerative medicine aimed at treating heart defects associated…

Lab-cultured heart tissues derived from patients’ stem cells are a suitable model to study the progression of Friedreich’s ataxia (FA) and to develop and test new therapies, a study says. The study, “Correlation between frataxin expression and contractility revealed by in vitro Friedreich’s ataxia cardiac tissue models engineered…