For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.
Experts at Newcastle University, UK, have shown in a cell model and in a mouse model that gene editing could be used for Joubert syndrome to stop kidney damage in patients who have the CEP290 faulty gene.
Joubert syndrome is a brain disorder, causing varying degrees of physical, mental and sometimes visual impairments. The condition affects approximately one in 80,000 newborns, and one third also get kidney failure.
Not all patients with Joubert syndrome carry the CEP290 gene, but those who do will develop kidney disease during their lifetime and may require a transplant or dialysis.
The study, which was funded by Kidney Research UK, has found it is possible to use a strand of engineered DNA to trick the cells’ own editing machinery to bypass the CEP290 mutation that causes kidney damage – a technique known as ‘exon-skipping’.
Professor John Sayer, from the Institute of Genetic Medicine, Newcastle University, led the research that is 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 within the kidney has been performed, even in a mouse model, as the design and delivery of the gene editing to the kidney has previously been thought to be too difficult.
“Our research is a major step forwards as we now know how we may be able to offer a therapy that corrects the gene mistake within kidney cells and prevent the development of genetic kidney disease.
“This work paves the way towards personalised genetic therapies in patients with the inherited kidney disease.”
The European study used kidney cells from patients with Joubert syndrome and a mouse model to progress the research.
Experts used urine samples to grow kidney cells in the laboratory to see how the cells responded to gene editing. They also performed gene editing to halt kidney disease in a mouse that had Joubert syndrome and rodents suffering from kidney cysts and kidney failure.
Professor Sayer, a Consultant Nephrologist at Newcastle Hospitals NHS Foundation Trust, said: “The treatment of genetic kidney disease is challenging, as this requires both the correction of the underlying gene defect and the delivery of the treatment.
“We have shown that the kidney disease in a mouse can be dramatically improved using this exon-skipping gene editing technology.
“This will mean that we can edit out genetic mistakes that are leading to inherited kidney diseases such as Joubert syndrome and we are testing this technology in other mouse models before we move into patient studies.
“We expect that we will start to test treatment of patients with exon-skipping within the next three years.”
Scientists are now looking to work with a drug manufacturing company to bring the exon-skipping technology into patients’ clinics.
Teenager Asher Ahmed has Joubert syndrome and is likely to need a kidney transplant in the future.
Asher, of Fenham, Newcastle, was diagnosed with kidney damage five years ago and is on a number of drugs to keep him well.
The 19-year-old has a range of medical issues due to his Joubert syndrome, including visual impairment, communication problems and difficulties with balance and coordination.
The teenager has been instrumental in helping further the research as he has provided many samples over the years, allowing the Newcastle scientists to grow kidney cells – without these the research would not have been possible.
Asher’s mother, Nabila, a Civil Servant, says she welcomes the findings of the Newcastle University-led study as it will help give patients a better quality of life in the future.
Mrs Ahmed said: “It is very important that research is done into Joubert syndrome and the linked kidney damage as this will hopefully prevent patients in the future needing a kidney transplant.
“All throughout Asher’s life, he has lived with the effects of Joubert syndrome and five years ago he was diagnosed with kidney disease as he has the CEP290 gene.
“Asher is on a number of tablets to keep him well and this is an added complication to an already difficult condition. We know he will likely need a transplant in the future and this is a worry.
“We were happy for Asher to provide samples for the study as anything that helps further understanding into the condition is well worth doing, so it’s great to see the study’s positive results.”
Learn more: Gene editing possible for kidney disease
The Latest on: Kidney disease
via Google News
The Latest on: Kidney disease
- Selecta Bio inks research pact with IGAN Bio for kidney disease drug candidateon October 8, 2020 at 1:23 pm
(NASDAQ:SELB) and privately-held IGAN Biosciences, have entered into a research license and option agreement to study former's ImmTOR immune tolerance platform in combination with latter's ...
- Houston rap legend Scarface pleads for kidney donor after COVID-19 battleon October 8, 2020 at 1:03 pm
Legendary Houston rapper Scarface is in need of a Kidney. Scarface, whose real name is Brad Jordan, shared the news to his Twitter followers when asking if anyone wanted to be his donor. "I need a ...
- Rapper Scarface Asks for Kidney Donation After COVID Battle Caused Organ Failure, Dialysison October 8, 2020 at 12:56 pm
Scarface is looking for someone to donate their kidney to him after a long battle with the coronavirus left him suffering from bilateral interstitial pneumonia earlier this year. The Geto Boys ...
- Hip-hop legend makes Twitter plea for kidney donationon October 8, 2020 at 12:37 pm
In April he said he suffered kidney failure while battling the virus. A few months later, he told Fox 5 DC that he was on dialysis due to his kidney's never recovering. He detailed how he felt living ...
- Scarface Says He Needs A Kidney Donor Following Battle With COVID-19on October 8, 2020 at 11:59 am
Scarface is facing another health battle as the rapper has revealed he is now in need of a kidney donor. The Geto Boys’ rapper made a post on Twitter on Wednesday (Oct. 7) asking for a volunteer. “I ...
- Houston rapper Scarface shares he's in need of a kidney on social mediaon October 8, 2020 at 11:27 am
Scarface, the legendary Houston rapper from the group The Geto Boys, is now in need of a kidney, according to a recent post on social media. The rapper contracted coronavirus back in March. Scarface's ...
- Man to get kidney nearly a decade after diagnosed with diseaseon October 7, 2020 at 4:15 pm
Nearly a decade after doctors diagnosed Stoney Harrison, of Cabarrus County, with kidney disease, he’s scheduled to get a new kidney next month.
- Biotech looking to fight kidney disease launches with $51 millionon October 6, 2020 at 12:08 pm
A biotech startup that’s working on drugs to reverse kidney disease has raised $51 million in venture capital.
- Walden Biosciences to Fight Kidney Disease With $51 Million Series Aon October 6, 2020 at 8:00 am
Walden Biosciences has raised $51 million in venture financing to develop drugs for kidney disease, one of a series of recent investments in a field that has received little venture capital.
via Bing News