Factor XI Deficiency
Factor XI deficiency, which is also listed as hemophilia C, happens when a person has mutated F11 genetics. Male and also women are equally likely to be carriers or to suffer from element XI shortage. The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia [...]
The Genes Underlying Autism Are Coming Into Focus
As researchers sequence, the DNA of thousands of kids with autism, dozens of genetic subgroups are emerging.
In late 2013, psychologist Raphael Bernier welcomed a 12-year-old girl and her parents into his office at the University of Washington (UW) in Seattle. The girl had been diagnosed with autism spectrum disorder, and Bernier had invited the family in to discuss the results of a genetic analysis his collaborator, geneticist Evan Eichler, had performed in search of the cause.
As they chatted, Bernier noticed the girl’s wide-set eyes, [...]
The Importance of DNA Carrier Testing for Muscular Dystrophy
Muscle dystrophy is an inherited genetic condition, which results in the dynamic weakening of the victim’s muscular tissues. This brings about the loss of muscular tissue feature with suffers of muscle dystrophy coming to be badly handicapped as well as facing a reduced lifespan. There is presently no treatment for the various kinds of muscle dystrophy, although a number of therapies and treatments have actually been used to lower the impact of this illness. Most notably, muscle dystrophy is an inherited [...]
Tyrosinemia and Figuring out if you’re a Carrier
Tyrosine is an amino acid that is part of the majority of proteins. Most bodies break down this amino acid without any problems and passes through the body with the event. Individuals with the Tyrosinemia genetic disorder nonetheless, cannot break down this amino acid. It builds up in the cells and also organs as well as causes severe illness. If the disease is left untreated, this protein build-up could lead to fatality.
There are 3 types of Tyrosinemia. Type I is one of the most serious, and also it shows up in babies. These [...]