Rare Classroom: Alkaptonuria
Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most…
Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most…
It's funny, I have to laugh every time someone asks me if I am pursuing a degree in Genetics because of my own genetic disease. Actually no. I knew I…
In the past, there existed no approved treatments for alkaptonuria (AKU), a rare genetic disorder characterized by homogentisate dioxygenase deficiency. However, according to Medical XPress, this recently changed as British…
According to a story from the AKU Society, the European Medicines Agency (EMA) has recently announced a positive opinion on extending the label indication for nitisinone (marketed as Orfadin®). The…
According to a story from mdmag.com, a recent proof-of-concept style study suggests that a certain machine learning tool could be of benefit to patients living with the rare condition alkaptonuria.…
A Rare Intervention For His Children’s Rare Disease An inspiring article has recently been published in the journal Nature that credits Nick Sireau, a resident of the UK, with…
According to a Science Daily report, new research by a group in Liverpool recently uncovered a drug for the treatment of alkaptonuria. Researchers published the collaborative study in the journal…
According to a story from the Independent, father Nick Sireau is worried that Brexit, the United Kingdom's plan to withdraw from the European Union, could affect the ability of his…
Alkaptonuria, a rare genetic metabolic disorder resulting from excess homogentisic acid in the body, affects all kinds of people, though symptoms tend to become more severe in males. Symptoms include:…
According to the AKU Society, Flavia was only a few weeks old when her parents noticed that her urine had stained her diaper an unnatural brown color. Flavia and her…
You've got to be dedicated to train for a marathon. When Brit Joe England signed on to raise pounds for the Alkaptonuria (AKU) Society, he was optimistic about finishing the…