NZ scientists tackle brain disease in Philippines

Neuroscientists from the University of Auckland and Massachusetts General Hospital worked together to help set up a brain bank on the small island of Panay in the Philippines.

Tissue donated to the brain bank provides a vital resource for the scientists, who are trying to unravel the secrets of X-linked dystonia parkinsonism (XDP).

This degenerative brain disease only strikes men of Filipino descent, often hitting when they are in their twenties or thirties.

About eight years ago, Distinguished Professor Sir Richard Faull, Associate Professor Henry Waldvogel and Dr Malvindar Singh-Bains from the University of Auckland’s Centre for Brain Research began providing expertise to help people in the Philippines with XDP.

The brain disease has a wide range of symptoms, with many men experiencing severe uncontrolled movements, muscle spasms and tremors.

“They're not aware of these swaying, jerking movements, until they try to do a task,” says Singh-Bains.

“Eating is a tough one for them. You see men twisting their head back, then forward, or they put a tea towel around their mouth to try to trick their brain into stopping the uncontrolled movements.

“It’s very confronting.”

Many are unable to walk, but don’t have resources like wheelchairs.

“Often, they end up bed-bound, lying on mattresses on the floor,” she says.

Although mothers who carry the gene that causes XDP have no symptoms, many carry a burden of guilt for passing on to their sons the gene that causes the debilitating disease, says Singh-Bains.

Panay has a population of about 4.5 million and about six out of every 100,000 people there suffer from XDP.

The outreach from Auckland to the Philippines began in 2017, when Harvard University Professor and Chief of Neurology Anne Young asked Sir Richard to join her on a trip to the Philippines to look for ways to help people with XDP.

In 1994, Sir Richard had founded the Neurological Foundation Human Brain Bank at the University of Auckland, so his expertise was desperately needed in the Philippines.

Two years later, the XDP Brain Bank was launched.

It was funded by the Sunshine Care Foundation and Collaborative Centre for XDP, established by Geraldine Acuña-Sunshine, whose Filipino brother has the condition.  

Singh-Bains and Waldvogel first visited the Philippines in 2018, their suitcases packed with essential equipment.

“We instantly knew that we wanted to help,” she says.

“My family is originally from India, and in the Philippines I saw the same extremes of wealth and poverty. So I have a strong sense of connection with the community there.”

Singh-Bains and Waldvogel condensed months of training into four-hour sessions, where locals learned how to painstakingly preserve brains donated by the families of people with XDP, after they passed away.

The methods they demonstrated in Manila and on Panay allow the tissue to be used for research at Auckland and Harvard universities.

The neuroscientists hope to uncover what happens inside a brain with XDP – and eventually find ways to treat the condition, says Singh-Bains, who is the Douglas Research Fellow at the Neurological Foundation Human Brain Bank.

From Auckland, she continues to guide staff and volunteers in the Philippines on brain preservation techniques, sometimes through late night video calls.

Tissue from more than 100 brains has now been processed by the brain bank in Panay.

Singh-Bains leads a team that has been working on identifying the ‘disease signature’ of XDP in brain tissue sent from Panay to Auckland. This work has been funded by the Collaborative Centre for XDP.

Later this year, the University of Auckland team hope to publish their groundbreaking discovery of the blueprint of the disease in the striatum, part of the brain that is crucial for controlling body movement.

“We've spent the past four years trying to figure out what the disease signature is in the striatum - and we think we’ve finally cracked it,” says Singh-Bains.

Mapping the signature of XDP in the brain will allow scientists to replicate the disease in lab-grown brain cells and animal models.

From there, researchers can start hunting for treatments that might relieve symptoms, prevent the onset of the disease, or delay its impacts.

Earlier this year, Sir Richard and Singh-Bains returned to the Philippines to celebrate the tenth anniversary of the Panay brain bank and Collaborative Centre for XDP.

They met with about 400 patients, family members and medical professionals, who expressed “immense gratitude” for their support, says Sir Richard.

Singh-Bains says the Western world doesn't always care about illnesses that affect people in distant lands.

“We get asked why brain scientists here in New Zealand are studying a disease that mostly affects people in the Philippines.

“Our answer is clear: We're trying to help humanity,” she says.

Sir Richard adds: “They reached out for our help and you can’t say no.”

Right now, the only treatment available to people with XDP in the Philippines is Botox injections, which help ease their movement symptoms for a few months.

“We’re giving all we can to try to find a better treatment,” says Singh-Bains.