ANU researchers find new disease

October 18, 2018

Researchers at The Australian National University (ANU) have discovered a new genetic disease and a method for detecting more unexplained medical conditions.

"We've discovered a new syndrome, the genetic cause and the mechanism that explains how the genetic variation causes the illness," said Professor Matthew Cook from The ANU College of Health and Medicine.

"It is a disease which is characterised by immune deficiency where patients get recurrent infections, especially chest infections, including recurrent pneumonia, but paradoxically patients also suffer inflammatory diseases of the skin, lymph nodes and the spleen," said Professor Cook.

"Some patients with the condition have been unwell for some 20 years and until now have not had a definite diagnosis."

Over the past five years, a dedicated team of researchers at the Centre for Personalised Immunology in the ANU College of Health and Medicine has been gene-hunting to find insights into rare diseases.

"Human genome sequencing is now relatively straightforward but the big challenge is to understand how genetic changes cause disease," said Professor Cook.

"We study rare diseases of the immune system. The methods employed in this study can be applied to resolve otherwise unexplained diseases."

The symptoms affecting patients with this unnamed syndrome are a combination of the immune system being too weak and not mounting a proper response, while in other respects producing an excessive response.

The research team identified the condition by whole genome sequencing patients and then characterising the patients' immune systems.

Meanwhile research colleagues in Japan identified the same disease in a second family with the same genetic variant.

"The Japanese patients had similar clinical problems and it turned out they had exactly the same genetic variant," said Professor Cook.

"To be sure we were dealing with the correct gene, we went on to introduce exactly the same genetic change in a mouse model using gene editing. This combined approach provides a powerful method for resolving potentially important genetic variants."

The discovery offers hope to other patients suffering from rare conditions who have struggled with getting a definitive diagnosis and appropriate treatment.

"Solving rare diseases is very important for two reasons. First, a genetic diagnosis provides certainty to patients who may have previously undergone many tests over many years, often without obtaining an answer," Professor Cook said.

"Second, rare diseases can provide important information about how the body works that can be useful for developing new tests and treatments for other diseases.

"Patients can now get some certainty which makes a big difference to people and we can use the process again and again."
-end-
The research has been published today in The Journal of Experimental Medicine.

IMAGES AND VIDEO FOR MEDIA USE:

High-resolution images: https://cloudstor.aarnet.edu.au/plus/s/jMhzEFH2TsvcYFc
* Please credit Lannon Harley, ANU.

FOR INTERVIEW:

Professor Matthew Cook, ANU College of Health and Medicine

T: + 61 2 6174 8523, E: matthew.cook@anu.edu.au M: 0414 594 599

For media assistance, contact Rachel Curtis +61 459897726 or the ANU Media Team on +61 2 6125 7979 or rachel.curtis@anu.edu.au.

Australian National University

Related Immune System Articles from Brightsurf:

How the immune system remembers viruses
For a person to acquire immunity to a disease, T cells must develop into memory cells after contact with the pathogen.

How does the immune system develop in the first days of life?
Researchers highlight the anti-inflammatory response taking place after birth and designed to shield the newborn from infection.

Memory training for the immune system
The immune system will memorize the pathogen after an infection and can therefore react promptly after reinfection with the same pathogen.

Immune system may have another job -- combatting depression
An inflammatory autoimmune response within the central nervous system similar to one linked to neurodegenerative diseases such as multiple sclerosis (MS) has also been found in the spinal fluid of healthy people, according to a new Yale-led study comparing immune system cells in the spinal fluid of MS patients and healthy subjects.

COVID-19: Immune system derails
Contrary to what has been generally assumed so far, a severe course of COVID-19 does not solely result in a strong immune reaction - rather, the immune response is caught in a continuous loop of activation and inhibition.

Immune cell steroids help tumours suppress the immune system, offering new drug targets
Tumours found to evade the immune system by telling immune cells to produce immunosuppressive steroids.

Immune system -- Knocked off balance
Instead of protecting us, the immune system can sometimes go awry, as in the case of autoimmune diseases and allergies.

Too much salt weakens the immune system
A high-salt diet is not only bad for one's blood pressure, but also for the immune system.

Parkinson's and the immune system
Mutations in the Parkin gene are a common cause of hereditary forms of Parkinson's disease.

How an immune system regulator shifts the balance of immune cells
Researchers have provided new insight on the role of cyclic AMP (cAMP) in regulating the immune response.

Read More: Immune System News and Immune System Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.