All articles tagged with #rare genetic disease
A 65-year-old woman in Austria was diagnosed with a rare genetic disorder called alkaptonuria after presenting with severe aortic stenosis and unusual black pigmentation in her heart tissues, which was treated successfully with surgery. The condition involves the buildup of homogentisic acid, leading to tissue staining and calcification, and is often underdiagnosed due to its rarity.
A drug used to treat certain bone diseases, etidronate, has shown promise in slowing the progression of ACDC disease, a rare genetic condition that causes excessive calcium buildup in the arteries. The first-in-human clinical trial, supported by the National Heart, Lung, and Blood Institute, found that the drug appeared safe and slowed the progression of new calcium deposits in the blood vessels of the legs, as well as improved symptoms such as pain and motion impairment. While it did not reverse existing calcium deposits or show clear improvement in blood flow, the study could lead to the first effective treatment for this rare disease and shed light on other diseases involving excessive calcium buildup in the arteries.
A new therapy for a rare genetic disease has become the world's most expensive drug, priced at $4.25 million. The treatment targets a rare genetic disorder that causes children to rapidly age and usually results in death during the teenage years. The high cost of the therapy has sparked concerns about accessibility and affordability, raising questions about the pricing of life-saving treatments for rare diseases.
John Crowley, who entered the biotech industry to find drugs to save his children from a rare genetic disease, faced a terrifying moment when his daughter collapsed unconscious. Despite the setback, Crowley remains determined to continue his work in biotech and find innovative solutions to save lives.
Eight-year-old Abby Alvey from Virginia is suffering from Niemann Pick Type C, a rare genetic disease that causes physical and neurological symptoms, including childhood dementia. Abby's body is slowly shutting down from the terminal illness, and her life expectancy is uncertain. Despite the challenges, Abby's family is determined to make the most of every moment with her, creating a superhero persona called "Abby Strong" to inspire her and others. They have set up a GoFundMe page to support her medical treatments and therapies. The family hopes that Abby's story will raise awareness about the importance of newborn genetic testing and screenings for rare diseases. Niemann Pick Type C is an inherited disease that affects the body's ability to transport cholesterol and fatty substances, leading to the buildup of toxic waste in cells. Currently, there is no cure for the disease.