Nav: Home

'Precision medicine' brings new relief for old diseases

March 31, 2016

The mystery of a rare, debilitating disease that has afflicted generations of European families - and long baffled their doctors - has been solved by an international collaboration involving Walter and Eliza Hall Institute researchers.

Dr Seth Masters from the institute, working in conjunction with Dr Adrian Liston and Dr Carine Wouters from Belgium, studied families in France, Belgium and England who had been living with an unknown condition that caused severe skin lesions, fevers, pain and exhaustion.

Every generation, half of the children of the people who suffered from this unknown disease develop the same symptoms.

The disease previously had no known cause or cure and has now been defined as Pyrin Associated Autoinflammation with Neutrphilic Dermatosis (PAAND).

Dr Masters said the team's work had pinpointed the cause of the disease - a genetic mutation - and by identifying the cause they had been able to effect a treatment.

This research, published in the international science journal Science Translational Medicine explains the mutation is found in gene called MEFV. This gene is known to cause an inflammatory disease called Familial Mediterranean Fever (FMF) in patients who inherit mutated copies from both their mother and father.

In the mutation found in PAAND patients, however, only a single copy of the mutation is needed to cause the disease, so it affects half of the children of patients.

"The PAAND mutation causes the body to respond as if there is an infection, which leads to the skin making an inflammatory protein which causes fevers, pain and skin lesions," Dr Masters said.

He said the research that led to this breakthrough in treatment - early results show a rapid clearance of skin lesions and a complete recovery from fevers and pain - was part of a growing area of "precision medicine".

"We are looking at rare and previously poorly-understood conditions that do not fit into categories of disease we are familiar with.

"The genetic analysis that is available to us now allows us to penetrate the cause of disease in a way that was out of our reach previously.

"It leads to specific, targeted therapies for conditions that previously were not even diagnosed."
This precision medicine approach is now being trialled in Victoria as part of the Melbourne Genomics Health Alliance:

The research was supported by the National Health and Medical Research Council, the Australian Research Council and the Victorian Government Operational Infrastructure Support Scheme.

Walter and Eliza Hall Institute

Related Pain Articles:

Pain researchers get a common language to describe pain
Pain researchers around the world have agreed to classify pain in the mouth, jaw and face according to the same system.
It's not just a pain in the head -- facial pain can be a symptom of headaches too
A new study finds that up to 10% of people with headaches also have facial pain.
New opioid speeds up recovery without increasing pain sensitivity or risk of chronic pain
A new type of non-addictive opioid developed by researchers at Tulane University and the Southeast Louisiana Veterans Health Care System accelerates recovery time from pain compared to morphine without increasing pain sensitivity, according to a new study published in the Journal of Neuroinflammation.
The insular cortex processes pain and drives learning from pain
Neuroscientists at EPFL have discovered an area of the brain, the insular cortex, that processes painful experiences and thereby drives learning from aversive events.
Pain, pain go away: new tools improve students' experience of school-based vaccines
Researchers at the University of Toronto and The Hospital for Sick Children (SickKids) have teamed up with educators, public health practitioners and grade seven students in Ontario to develop and implement a new approach to delivering school-based vaccines that improves student experience.
Pain sensitization increases risk of persistent knee pain
Becoming more sensitive to pain, or pain sensitization, is an important risk factor for developing persistent knee pain in osteoarthritis (OA), according to a new study by researchers from the Université de Montréal (UdeM) School of Rehabilitation and Hôpital Maisonneuve Rosemont Research Centre (CRHMR) in collaboration with researchers at Boston University School of Medicine (BUSM).
Becoming more sensitive to pain increases the risk of knee pain not going away
A new study by researchers in Montreal and Boston looks at the role that pain plays in osteoarthritis, a disease that affects over 300 million adults worldwide.
Pain disruption therapy treats source of chronic back pain
People with treatment-resistant back pain may get significant and lasting relief with dorsal root ganglion (DRG) stimulation therapy, an innovative treatment that short-circuits pain, suggests a study presented at the ANESTHESIOLOGY® 2018 annual meeting.
Sugar pills relieve pain for chronic pain patients
Someday doctors may prescribe sugar pills for certain chronic pain patients based on their brain anatomy and psychology.
Peripheral nerve block provides some with long-lasting pain relief for severe facial pain
A new study has shown that use of peripheral nerve blocks in the treatment of Trigeminal Neuralgia (TGN) may produce long-term pain relief.
More Pain News and Pain Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Climate Mindset
In the past few months, human beings have come together to fight a global threat. This hour, TED speakers explore how our response can be the catalyst to fight another global crisis: climate change. Guests include political strategist Tom Rivett-Carnac, diplomat Christiana Figueres, climate justice activist Xiye Bastida, and writer, illustrator, and artist Oliver Jeffers.
Now Playing: Science for the People

#562 Superbug to Bedside
By now we're all good and scared about antibiotic resistance, one of the many things coming to get us all. But there's good news, sort of. News antibiotics are coming out! How do they get tested? What does that kind of a trial look like and how does it happen? Host Bethany Brookeshire talks with Matt McCarthy, author of "Superbugs: The Race to Stop an Epidemic", about the ins and outs of testing a new antibiotic in the hospital.
Now Playing: Radiolab

Speedy Beet
There are few musical moments more well-worn than the first four notes of Beethoven's Fifth Symphony. But in this short, we find out that Beethoven might have made a last-ditch effort to keep his music from ever feeling familiar, to keep pushing his listeners to a kind of psychological limit. Big thanks to our Brooklyn Philharmonic musicians: Deborah Buck and Suzy Perelman on violin, Arash Amini on cello, and Ah Ling Neu on viola. And check out The First Four Notes, Matthew Guerrieri's book on Beethoven's Fifth. Support Radiolab today at