New 'gene therapy' can treat rare, hereditary diseases with no cure

San Francisco: While a lot of research for decades brought possible treatment for cancer and heart diseases that affect many people globally, the researchers said there are many diseases that affect just a handful of people, which include quite a few rare, hereditary diseases, such as DOOR syndrome.

However, a team of scientists is now in the process of trying to change this as they have found a new therapy called "gene therapy" that can help treat rare and hereditary diseases, according to the study published in the journal Genome Biology.

"For some hereditary, rare diseases, there is currently no cure. However, gene therapy is a possible solution, and we are now testing various strategies using gene therapy," said Magnar Bjoras, a professor at the Norwegian University of Science and Technology (NTNU).

DOOR Syndrome, one of the rare diseases that has currently no medication or treatment, stands for Deafness, Onychodystrophy (short or absent nails), Osteodystrophy (short fingers and toes) and developmental delay and intellectual disability (previously called mental retardation). This is a congenital disorder that involves multiple abnormalities, which are hereditary and caused by the lack of a specific protein in the genes called OXR1 (OXidation Resistance gene 1).

The researchers used the mini-organs to test drugs and gene therapy. Mini-organs such as mini-brains, mini-lungs and mini-eyes, which Bjoras's team has been working on growing since 2018, the study noted.

Using skin cells from people with DOOR syndrome, the scientists have recreated the disease in the mini-brains, which they can then use to test out therapies for this disease.

The work has given the scientists insight into the reasons why patients develop disease -- and thus also ideas for treatment strategies.
Gene therapy is one possible treatment where the brain cells can be made to start producing the missing protein.

A virus is actually used as a messenger that delivers the necessary production information to the brain cells, the study said. "We create a harmless virus in the lab and then put a healthy OXR1 gene into the virus' genome, and this gene has the ability to produce the protein that brain cells lack in people with DOOR syndrome," Bjoras said.

After injecting the virus into the mini-brains, the researchers found that the gene introduced into the brain cells via the virus can then begin to produce the missing protein.

"If this protein can be overproduced, it helps to stop and, at best, reverse the disease. In order to treat DOOR syndrome, patients will need to start gene therapy at a very early stage, probably as soon as the first symptoms of the disease are noticed," according to Bjoras.