In Japan researchers at the Juntendo University have discovered that when ECHS1 enzyme variations of mitochondrial enoyl-CoA hydratase short chain 1 (ECHS 1) do not function properly, they cause…
Reanna and Malaky always knew they wanted to start a family together. They tried for a while without success—so they were thrilled when they learned that Reanna was pregnant with…
In the United States, the FDA grants Orphan Drug designation to drugs or biologics intended to diagnose, prevent, or treat rare conditions (those affecting fewer than 200,000 people in…
When Arica Svoboda thinks of her two children, Hayes and Hendrix, she can’t help but fill up with love. She tells Patient Worthy: “My boys are special. Their smiles and…
Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…
Ten years ago, a biochemist was seeking investors for her new company that was developing mitochondrial-based medicines. The Israeli-born embryologist observed how the blending of mitochondria from one egg…
Scientists affiliated with Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia recently identified a novel mitochondrial disorder in a pair of identical twins. Doctors began studying these twins when…
Happy Monday! This week, we have stories on a potential treatment approach for an aggressive form of mitochondrial disease, an experimental treatment for osteosarcoma earning Rare Pediatric Disease designation, and…
Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…
FBXL4-related mitochondrial disease urgently requires new therapies. Unfortunately, this condition is often fatal by early ages (early to mid-childhood). Therefore, it is important to spur research into potential interventions or…
Mitochondria are called the ‘batteries’ that send power to our body’s cells. They convert energy from food into forms that cells can utilize. Mitochondria contain 0.1% of mitochondrial DNA (mtDNA)…
Written by Gina Baker This year Global Mitochondrial Disease Awareness week is September 19-25, but my family and I will continue to fight this battle for the rest of…
Leigh syndrome is a rare mitochondrial disease that is not yet well understood by medical professionals. When this lack of comprehension exists, it is impossible to create treatments or improve…
Mitochondrial Disease Mitochondrial disease is a rare and progressive condition that currently does not have a cure. The mitochondria is responsible for providing energy to the body. This energy is used…
The third week of September is recognized annually as Mitochondrial Disease Awareness Week. This global event is held in order to increase awareness of mitochondrial disease in the medical community…
Well-known characteristics of aging are the loss of skeletal muscle mass and a general decline in all of the organs in the body. The speed of decline coincides with the…
A recent study published in the Orphanet Journal of Rare Diseases examines the psychological burden of mitochondrial diseases in children that are suspected of having some form of it but have yet…
The Boston Globe recently interviewed the principals in a case brought by the Pelletier family against the Boston Children’s Hospital. The article gives details about a family’s charge of…
Some scientists never have the opportunity to meet a single patient in the community of the disease they work their entire lives trying to understand. This can make them feel…
When Lucinka was born, it seemed like everything was all right. But it wasn’t. Lucinka wasn’t doing well, and a whirlwind of examinations began. First, a diagnosis couldn’t be made.…
According to a story from Wales Online, Samantha Josey's childhood was characterized by unpleasant symptoms and health problems, resulting in hospital visits and bouts of serious illness. Her symptoms included…
According to a story from clinicaltrials.gov, the Children's Hospital of Philadelphia is sponsoring a study that has the potential to make mitochondrial disease research and drug development much easier. The…
As originally reported in Scimex from a press release by The MITO Foundation, the main five patient advocacy groups on mitochondrial diseases have pledged to work together to afford 1…
This year Mitochondrial Disease Awareness week is September 15-21 but I and other members of my family will continue to fight this battle for the rest of our lives. For…
According to a publication from Business Wire, the Israeli biotechnology company Minovia Therapeutics recently finished dosing the first participant in a phase I/II clinical study of the Company's experimental mitochondrial…
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