Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. Tyrosinemia is caused by the shortage (deficiency) of one of the enzymes required for the multistep process that breaks down tyrosine. If untreated, tyrosine and its byproducts build up in tissues and organs, which leads to serious medical problems.
A small pilot clinical study at the National Eye Institute suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B, a rare genetic disease that causes pale skin and hair and poor vision.
There are hundreds of metabolic disorders -- including phenylketonuria, tyrosinemia, maple syrup urine disease and homocystinuria.
Researchers have successfully used prenatal gene editing (CRISPR-Cas9) to prevent a fatal metabolic disorder in an animal model.
Researchers from MIT have now developed nanoparticles that could carry CRISPR genetic editing systems deep within the cells and perform their functions on the DNA. The paper was published in the November issue of Nature Biotechnology.
With a shortage of donor organs, Mayo Clinic is exploring therapeutic strategies for patients with debilitating liver diseases. Researchers are testing a new approach to correct metabolic disorders without a whole organ transplant. Their findings appear in Science Translational Medicine.
University of Massachusetts Medical School researchers have found a way to more efficiently delivery a CRISPR/Cas9 therapeutic to adult mice with the metabolic disease Tyrosinemia type I that may also prove to be safer for use in humans.
Using a new gene-editing system based on bacterial proteins, MIT researchers have cured mice of a rare liver disorder caused by a single genetic mutation.
A consortium of Quebec researchers coordinated by the Medical Genetics Service of the Sainte-Justine UHC has just published the findings of a 25-year study on the treatment of tyrosinemia, a life-threatening liver disease of genetic origin, which is screened at birth in the province of Quebec, where it is much more frequent than anywhere else in the world.
A novel human liver-chimeric mouse model developed at Oregon Health & Science University and Yecuris Corporation has made possible a research breakthrough at Seattle Biomedical Research Institute that will greatly accelerate studies of the most lethal forms of human malaria.
UCB and Synosia Therapeutics announced today a new strategic partnership in neurology. Synosia has granted UCB a license for exclusive, worldwide rights to the development compound SYN-115 and rights to a second compound, SYN-118, for non-orphan indications. Both are in Phase II clinical development for the treatment of Parkinson's disease.
The Food and Drug Administration has cleared for marketing a new laboratory blood test that will help doctors screen newborn infants for a variety of inherited diseases.