Latest Channelopathy Stories
Researchers at the University of Massachusetts Medical School (UMMS) believe they may have found a new treatment for retinitis pigmentosa (RP), a severe neurodegenerative disease of the retina that ultimately results in blindness.
An in-depth study of a family with multiple generations affected by kidney disease has identified a previously unknown location for a gene abnormality causing focal segmental glomerulosclerosis (FSGS).
It's safe to say that cilia, the hairlike appendages jutting out from the smooth surfaces of most mammalian cells, have long been misunderstood â€“ underestimated, even.
Usher syndrome (USH), an inherited condition involving both hearing and vision loss, is not a simply recessively inherited disease.
An international first: A research team at MUHC/McGill validates the effectiveness of a rapid genome sequencing process for hereditary genetic diseases.
TOKYO, June 3 /PRNewswire/ -- We are pleased to announce that the Phase II clinical study of UF-021, product name Ocuseva (TM), which we are developing as a therapeutic drug for retinitis pigmentosa (note 1), has been completed. Retinitis pigmentosa is an intractable disease where therapeutic drugs or therapeutic methods have not been established yet.
Patients who encounter serious lung diseases in middle age, despite an absence of family history or other predisposing factors, may still have their genes to blame.
WAYNE, N.J., March 11 /PRNewswire/ -- Bayer HealthCare Pharmaceuticals announced today that an orphan drug designation has been granted by the U.S.
CF Foundation's $1 Million Investment Helped Drug Known as Cayston(R) Become a Reality BETHESDA, Md., Feb. 22 /PRNewswire-USNewswire/ -- The U.S.
In a study that could lead to new therapeutic targets for patients with the cystic fibrosis, a research team from the University of California, San Diego School of Medicine has identified a defective signaling pathway that contributes to disease severity.
Cystic fibrosis, also called mucoviscidosis, is an autosomal recessive genetic disorder of the viscous secretions in the body. In turn, it effects the lungs, pancreas, liver, and intestines, as well as all other exocrine glands in the body. The most common genetic mutation that causes CF is a deletion of three nucleotides that results in a loss of phenylalanine, an amino acid at the 508th position on the protein. It should be noted, however, that there are over a thousand other mutations that...
- The horn of a unicorn considered as a medical or pharmacological ingredient.
- A winged horse with a single horn on its head; a winged unicorn.