Therapy to treat rare, hereditary diseases like 'mental disability'

Gjovik [Norway]: Over many decades, much study has been conducted on diseases that affect big populations, such as cancer and heart disease. As a result of long-term research efforts on diseases that affect a large number of people, therapeutic approaches have vastly improved.

However, there are many diseases that affect just a handful people. These diseases often fly under the radar and are far less researched. They include quite a few rare, hereditary diseases, such as DOOR syndrome, which is especially found in Canada and the Middle East.

A team of scientists is now in the process of trying to change this.

"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," says Magnar Bjoras, a professor at the Norwegian University of Science and Technology (NTNU's) Department of Clinical and Molecular Medicine.

He has established a research team at NTNU and Oslo University Hospital that conducts basic research on rare, hereditary diseases with a long-term goal of finding new therapies.

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Brain cells become dysfunctional or die
One of the rare hereditary diseases for which there is currently no medication or treatment is called DOOR syndrome.

This is a congenital disorder that involves multiple abnormalities. DOOR is an acronym for the main features of the disorder: Deafness, Onychodystrophy (short or absent nails), Osteodystrophy (short fingers and toes) and developmental delay and intellectual disability (previously called mental Retardation).

DOOR syndrome is hereditary and is caused by the lack of a specific protein in the genes called OXR1 (OXidation Resistance gene 1).

"Due to lack of this protein, the brain cells are unable to develop as they should. As a result, the brain cells either become dysfunctional or simply die," says Magnar Bjoras.

In order to investigate whether there is a way to prevent this from happening, the Bjoras team has carried out tests inside mini-brains that they grow in their lab.

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From skin cells to mini-organs
The Bjoras team has been working on growing mini-organs such as mini-brains, mini-lungs and mini-eyes since 2018. The scientists use the mini-organs to test drugs and gene therapy.

In order to grow mini-brains for their research on DOOR syndrome, the research team needed cells from people who have this disease.

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

The process of developing mini-brains takes several months and is painstaking and expensive. (with ANI inputs)

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