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,…

Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients as “diagnosis uncertain” instead of “possible” mitochondrial disease when suspected cases have not yet been genetically confirmed, a review study suggests. In addition, a definitive diagnosis requires the detection of a disease-related genetic defect, according…

An interdisciplinary University of Arkansas research team has been awarded a grant by the National Institutes of Health to find better and faster diagnostic tools for mitochondrial diseases. The team — led by Kyle Quinn, assistant professor of biomedical engineering, and Shilpa Iyer, assistant professor of…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

More than one-fifth of patients who are carriers of the m.3243A>G mutation, one of the most common genetic variants linked to MELAS spectrum disorder, have a significantly higher fear of disease progression, a study shows. Recognizing this fear as a limiting psychological symptom with real implications in a person’s…

How — and how often — patients with mitochondrial diseases make use of healthcare services represents a greater burden than that of the general population, a retrospective study shows. Moreover, the healthcare costs for patients with mitochondrial disease are comparable to those of neurodegenerative diseases such as multiple sclerosis and…

Owing to its commitment to mitochondrial medicine, the Icahn School of Medicine at Mount Sinai has been designated a certified Mitochondrial Medicine Center by the Mitochondrial Care Network (MCN). The network, a growing collaborative founded by multiple national mitochondrial disease advocacy organizations, also named as field leaders Mount…

New mutations affecting the NDUFA6 gene were identified as the cause of early-onset severe mitochondrial disorder in four unrelated children, a report shows. The study, “Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency,” is the first report implicating this gene in…

Analysis of a cerebrospinal fluid protein called neurofilament light (NfL), which is linked to nerve cell damage, can help monitor the neurodegenerative process in patients with mitochondrial diseases. This finding resulted from the study “Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients,” which…