January 11, 2013 -- The United States CD Genomics issued a report On June 15, 2012, researchers discovered the mutant genes which has caused the twins affected with Dopa - Responsive Dystonia through whole genome sequencing for the twins and their brother, parents' and did compariative analysis, so that the doctor carry out specific treatment for their disease, and has achieved good effect, Dr. Chen, director of the genome sequencing center , said: "we have the ability to use the whole genome sequencing to benefit patients, this is a huge progress."
CD Genomics is a company which provide with high-quality sequcing service, it has professional research group as well as advanced sequencing equipment. Dr. Chen and his fellow workers using the Applied Biosystems (AB) SOLiD System sequenced and researched the genes of the twins and their brother, parents' through comparative analysis, finally discovered the main factors lead to the illness of the twins - mutant gene ink pterin reductase.
After the research team conducted entire human genome sequencing for the twins and comparatively studied with their parents and brother, they found three mutant genes may be the cause of the disease. The function of two genes is unknown, but one of them ,ink pterin reductase and the dopamine response muscular tension dysfunction. Two twins inherited the two variables copy of the two genes. One copy comes from the mother, and the other one comes from the father. The mother has a nonsense mutation (nonsense mutation stops reading messenger RNA, leading to generate a clipped protein which can not work properly), the father has a missense mutation (missense mutation led to the different kinds of amino acids, and cause protein change related to gene).
When the SPR mutates, it undermines the cells pathway of producing dopamine and two neurotransmitters, which are seroton and norepinephrine. Dopamine and serotonin are applied to the synapsis making nerve cells transfer electricity or chemical signal with each other. The result means the twins not only lack of dopamine, but also lack of serotonin.
Seen from the video presented by the mother Retta Beery, we are glad to see Alexis and Noah can sing while playing piano like normal children .Beerys turned into a normal family.
When the Beerys got rid of the pain caused by genetic disease, the time of human individualized medical treatment has come. Beerys’ case plays a very important role in the study of human genetics, because genome sequencing enables people to better understand what kind of disease will they are infected with when only got one copy of the gene mutation. Beery’s parents have a gene mutation which can affect their children. On the one hand, the two mutations lead to the children’s serious disease, on the other hand,there is at least one mutation may related to Retta Beery,s infection with fibromyalgia, the disease also influence the other family members.
The CEO of CD Genomics responsible for great China region, Dr.Chen said the gene sequencing technology develops is very rapid at present, such as the Applied Biosystems (AB) SOLiD System launched by CD Genomics earlier this year is a highly accurate, massively parallel genomic analysis platform that supports a wide range of applications, if the trends continues, sequencing technology will soon enter a new stage.