Tyrosinemia News and Research

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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.

Penn Medicine and CHOP receive $26 million NIH grant to develop treatments for three rare genetic diseases

A Penn Medicine and Children's Hospital of Philadelphia (CHOP) team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health (NIH).

1 Aug 2023

Genetically engineered bacteria can monitor health from within

That feeling in your gut? Well, it's in your head, but some of it does truly start in the gastrointestinal tract.

12 Nov 2021

Dietary induction of hepatocyte regeneration may be a viable strategy to enhance gene repair

Use of thyroid hormone to boost hepatocyte proliferation enhanced the efficiency of CRISPR/Cas9-mediated gene correction in the mouse liver.

11 Nov 2020

Drug increases melanin production in some people with albinism

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.

21 Feb 2019

Yeast model may pave way for development of novel therapies for metabolic disorders

There are hundreds of metabolic disorders -- including phenylketonuria, tyrosinemia, maple syrup urine disease and homocystinuria.

17 Jan 2019

Researchers use CRISPR-Cas9 to prevent congenital disease in utero

Researchers have successfully used prenatal gene editing (CRISPR-Cas9) to prevent a fatal metabolic disorder in an animal model.

8 Oct 2018

Nanoparticles carrying CRISPR gene editing tools for genetic modifications

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.

14 Nov 2017

Researchers test new approach to treat metabolic diseases without organ transplant

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.

27 Jul 2016

New way to more efficiently deliver CRISPR/Cas9 therapeutic to mice with Tyrosinemia type I

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.

2 Feb 2016

New gene-editing system holds potential for treating many genetic disorders

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.

31 Mar 2014

Nitisinone treatment effectively prevents tyrosinemia in children

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.

1 Nov 2012

First demonstration of newly developed dual humanized FRGTM KO system against malaria

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.

11 Sep 2012

UCB, Synosia Therapeutics announce new strategic partnership in neurology

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.

12 Oct 2010