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A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Children living with genetic or mitochondrial disease in Charlotte, North Carolina, will soon be able to ride new adapted bikes donated by the ACMG Foundation for Genetic and Genomic Medicine during a special Day of Caring, as part of the ACMG’s…

Researchers found that inherited mutations in the PMPCB gene lead to a wide range of impairments in mitochondria and cause a form of early childhood neurodegenerative disorder in members of four unrelated families. The study, “Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in…

The normal interaction between two key members of the same mitochondrial protein family is essential to maintain proper energy production and prevent oxidative damage associated with neurodegenerative diseases, Wayne State University researchers have found. The study titled “The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2):…

Mitochondrial DNA can react with certain chemicals in the body to produce compounds that trigger genetic mutations — and the mutations can lead to mitochondrial disease, a study reports. The research at the Vanderbilt University School of Medicine dealt with mitochondrial DNA’s interaction with oxygen-containing chemicals called reactive oxygen species. Mitochondria…

A specific branch of cells’ stress-response pathway called unfolded protein response (UPR) may help protect mitochondria, new research shows. This finding suggests that controlling this particular branch may help prevent or delay the defects in mitochondria that accumulate as we age and fuel so many human diseases. The study “…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

Exactly how the circadian rhythm — our 24-hour internal clocks — and mitochrondria — our cell’s energy producers — cross talk to coordinate their work and maintain cellular health appears to rest on the workings of a protein called DRP1, researchers report. Their study, “Circadian Control of DRP1 Activity Regulates Mitochondrial…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

Errors in the chemical processing that takes place in the production of mitochondrial proteins may play a role in the development of certain mitochondrial diseases, scientists from Japan have found. The study, “Defective Mitochondrial tRNA Taurine Modification Activates Global Proteostress and Leads to Mitochondrial Disease,” was published in…