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For the first time, scientists have identified ways to end kidney disease in a life-limiting genetic disease, which could pave the way for personalized treatment in the future.
Experts from the University of Newcastle, UK, have shown in a cellular model and a mouse model that gene editing could be used for Joubert syndrome to prevent kidney damage in patients. patients with defective gene CEP290.
Joubert's syndrome is a brain disorder that causes various degrees of physical, mental and sometimes visual impairment. This disease affects about one in 80,000 newborns and one-third of them also suffer from kidney failure.
Not all patients with Joubert's syndrome carry the CEP290 gene, but those who suffer from it will develop kidney disease in their lifetime and may require a transplant or dialysis.
Significant breakthrough
The study, funded by Kidney Research UK, showed that it was possible to use a modified DNA strand to deceive the cell's own editing machines and bypass the CEP290 mutation that causes kidney damage – a technique known as the name of "exon jump". & # 39 ;.
Professor John Sayer, of the Institute of Genetic Medicine at the University of Newcastle, led the research published online today (Friday, November 16) in the Proceedings of the National Academy of Sciences (PNAS).
He said: "This is the first time that gene editing in the kidney is done, even in a mouse model, because the design and delivery of gene editing in the kidney has already been judged too difficult.
"Our research represents a big step forward because we now know how we could offer therapy that corrects genetic error in kidney cells and prevents the development of genetic kidney disease.
"This work paves the way for personalized genetic therapies in patients with hereditary kidney disease."
The European study used kidney cells from patients with Joubert syndrome and a mouse model to advance research.
Experts used urine samples to grow kidney cells in the laboratory to determine their reaction to gene editing. They also proceeded to gene editing to end kidney disease in a mouse with Joubert syndrome and rodents with kidney cysts and kidney failure.
Difficult disease
Professor Sayer, Nephrology Consultant at the NHS Hospitals NHS Foundation Trust, said: "The treatment of genetic kidney disease is a challenge because it requires both the correction of the underlying gene defect and the delivery of treatment.
"We have shown that kidney failure in a mouse can be dramatically improved with this exon-leap gene editing technology.
"This means that we will be able to correct the genetic errors that lead to hereditary kidney diseases such as Joubert's syndrome, and we test this technology on other mouse models before going to patient studies.
"We expect that we will begin testing the treatment of patients with jump exon by three years."
Scientists are now looking to work with a drug manufacturing company to incorporate exon skipping technology into patients' clinics.
History of the patient
The teenager Asher Ahmed is suffering from Joubert syndrome and will probably have to undergo a kidney transplant in the future.
Asher, of Fenham, Newcastle, was diagnosed with kidney damage five years ago and is taking several medications to keep him healthy.
The 19-year-old suffers from many medical problems related to his Joubert syndrome, including visual impairment, communication problems, and balance and coordination problems.
The teen has helped advance the research because it has provided many samples over the years, allowing Newcastle scientists to grow kidney cells. Without this research, research would not have been possible.
Asher's mother, Nabila, a civil servant, welcomes the findings of the study conducted by the University of Newcastle, which will help improve the quality of life of patients.
Ms. Ahmed said, "It is very important to conduct research on Joubert's syndrome and associated kidney damage, as this will hopefully prevent patients who require a kidney transplant at the same time. ;to come up.
"Since the beginning of his life, Asher has lived with the effects of Joubert's syndrome.He was diagnosed five years ago with a kidney disease, linked to the CEP gene290.
"Asher takes several tablets to keep him well, which is an additional complication in an already difficult condition.We know that he will probably need a transplant in the future, which is a source d & # 39; concern. "
"We were pleased that Asher provide samples for the study because anything that can help better understand the disease is worth it, so it's nice to see the positive results of the study."
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