Sequencing the genome of patients reveals the genetic cause of their disease.

Sequencing the genome of patients reveals the genetic cause of their disease

Researchers have fully sequenced the genome of patients and their immediate families, identifying the specific genetic cause of their disease which opens the door to increased use of genomics for personalized treatments, according to work published Wednesday.

The first research conducted by Dr. James Lupski of Baylor College of Medicine in South Texas, both researcher and subject of the study, allowed to sequence his own genome and precisely determine the gene responsible for Charcot's disease -Marie-Tooth (CMT) which he suffers.

It is a rare neurological condition causing gait disorders and frequent deformity of the feet. This syndrome does not affect life expectancy.

"This is the first time we have tried to identify a genetic mutation that causes disease in this way," says Dr. Lupski, deputy director of Baylor College's Center for Molecular Research and Human Genetics. These works appear in the New England Journal of Medicine of March 11.

"This demonstrates that genomic technology is strong enough to be able to detect disease-causing genes with complete genome sequencing," and to infer clinical information to develop targeted treatments that is "the goal or the dream of the genome." personalized genomic medicine, "he adds.

Dr. Lupski's genome sequencing revealed different mutations in copies of the SH3TC2 gene transmitted by his parents. While the latter do not suffer from the disease, four of their children have inherited these genetic mutations and are suffering from CMT.

The second study, published in the Science Express online journal conducted by the Institute for Systems Biology in northwest Seattle, sequenced the genome of a family of four, confirming in particular the role played by several genes in two rare diseases that affect both children but not their parents.

This is Miller's Syndrome, characterized by facial malformations and limbs and Primary Ciliary Dyskinesia affecting the cilia in the respiratory tract.


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