News

Researchers have identified two novel variants of the BCS1L gene, linking one to a mitochondrial disease with progressive kidney failure in an adult, and the other to an infant with GRACILE syndrome. Given the scarce information available on BCS1L genetic variants and their outcomes for patients, researchers recommend…

Zogenix has acquired Modis Therapeutics and, in doing so, added to its portfolio MT1621, a potential treatment for a mitochondrial disease called TK2 deficiency. TK2 (thymidine kinase 2) is a protein involved in the normal function of mitochondria. It helps to make and maintain the DNA…

From walks and runs, to discussions and illuminated landmarks, a myriad of activities are on tap around the world for Global Mitochondrial Disease Awareness Week, slated for Sept. 15 to 21. Largely coordinated by International Mito Patients (IMP), a network of national patient organizations involved in mitochondrial…

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,…

Some children with mitochondrial diseases, such as Leigh syndrome, may benefit from using mTOR inhibitors like everolimus, an approved oral medicine for other conditions, a case series suggests. That treatment led to sustained improvements in a 2-year-old girl with Leigh syndrome, restoring her ability to walk and lessening…

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,…

Mutations in the OPA1 gene result in optic atrophy by disrupting the ability of a key protein to bind and stabilize the inner membrane of mitochondria, according to new research. Optic atrophy can cause problems with vision, including blindness. The study, “Structure and assembly of…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

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…

The Barth Syndrome Foundation (BSF) and the Barth Syndrome UK announced the start of the CARDIOMAN clinical trial evaluating whether bezafibrate, a cholesterol medicine, can treat boys and men with a rare mitochondrial disease called Barth syndrome. The trial is running in Bristol, England, and…