by Murdoch Children’s Research Institute Graphical abstract. Credit: Genetics in Medicine (2024). DOI: 10.1016/j.gim.2024.101271 More than half of people with mitochondrial disease can be diagnosed via genomic sequencing, a finding that will revolutionize care for families, according to a new study. And the Melbourne researchers have discovered what boosts and impacts the testing results, especially among children. The...
Tag: <span>Mitochondrial Disease</span>
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New mitochondrial disease identified in identical twins
by Massachusetts General Hospital Credit: Pixabay/CC0 Public Domain In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children’s Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previously reported. Diseases that affect mitochondria—specialized compartments within cells that contain their own DNA and convert the food we eat into...
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Researchers identify cells that cause neuronal death in a mitochondrial disease animal model
by Autonomous University of Barcelona Microglial cells in an affected brain region in untreated diseased animals (left) and the same region in treated animals (right). Credit: Autonomous University of Barcelona Microglia, a type of central nervous system cell, is primarily responsible for neuronal death in Leigh Syndrome and the neurological symptoms related to this mitochondrial...
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‘Maeve’s law’ would let IVF parents access technology to prevent mitochondrial disease
by David Thorburn, Megan Munsie, The Conversation Credit: Louise Hyslop & Mary Herbert, Univ. Newcastle upon Tyne The Senate is this week debating “Maeve’s law”—a proposal to legalize access to new assisted reproductive techniques that will reduce the risk of parents passing on mitochondrial disease to their children. The legislation, formally called the Mitochondrial Donation Law...
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Researchers develop new clinical diagnostic test to identify genetic sources of mitochondrial disease
by Children’s Hospital of Philadelphia Structure of the human mitochondrial genome. Credit: Wikipedia/CC BY-SA 3.0 Researchers from the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) have developed a comprehensive sequencing test specifically for mitochondrial DNA (mtDNA). This new clinical diagnostic test, launched in the Division of Genomic Diagnostics (DGD) at CHOP, provides...
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Researchers find effective combination of therapies for managing mitochondrial disease
by Children’s Hospital of Philadelphia Credit: CC0 Public Domain Researchers from the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) have demonstrated how one combination of therapies may be beneficial for patients with mitochondrial respiratory chain disorders. This preclinical research paves the way to develop more tailored treatment options for patients with inherited mitochondrial disease and acquired...
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New Clinical Care Guidelines Issued for Patients with Mitochondrial Disease
CHOP Clinician Co-Leads Consensus Statement for Managing Complex Group of Genetic Disorders PHILADELPHIA, Oct. 25, 2017 /PRNewswire-USNewswire/ — Physicians who see patients with mitochondrial disease now have a practical new tool—a set of guidelines for managing and caring for those patients. Occurring in at least one in 4,500 individuals, mitochondrial disease is caused by defects in genes affecting the function...