$300m from Ice Bucket Challenge helped fund ALS breakthrough: US scientists

Just one year ago, Facebook feeds were awash with videos and photos of people pouring buckets of cold water on their heads in the name of medical research.

At the time, the Ice Bucket Challenge had become the viral campaign everyone was talking about - an online effort to raise awareness and funds for amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig's disease.

Jonathan Ling and Philip Wong practise what they preach.Credit: YouTube

The movement attracted criticism of social media "slacktivism" - a convenient way for people to act in the belief they are making a difference without achieving anything at all.

But one year and more than $US220 million ($300 million) in global donations later, scientists at Johns Hopkins University are claiming a major breakthrough in ALS research and are partly crediting the success to the massive influx of public interest.

Jonathan Ling and Philip Wong from Johns Hopkins University.Credit: YouTube

"Without it, we wouldn't have been able to come out with the studies as quickly as we did," Philip Wong, a professor at Johns Hopkins who led the research team, said.

"The funding from the Ice Bucket is just a component of the whole - in part, it facilitated our effort."

Professor Wong and his team have been studying ALS for about a decade, but as Jonathan Ling, another researcher at Johns Hopkins, said in an "Ask Me Anything" thread on reddit, the millions of dollars brought into the field has given researchers the financial stability to pursue "high risk, high reward" experiments.

The breakthrough research unravels the mystery about a protein called TDP-43. About a decade ago, researchers discovered that ALS patients often had clumps of the protein outside the nuclei of their brain cells, but it was unknown whether that was a cause or an effect of the disease.

After being challenged by New Jersey Governor Chris Christie, Facebook creator Mark Zuckerberg took on the ALS Ice Bucket Challenge last August.Credit: YouTube

In a study of the protein in mice cells, published last week in the journal Science, the Johns Hopkins scientists detail how TDP-43 - which is supposed to decode DNA - breaks down and becomes "sticky".

They are unable to read the DNA properly and the cell dies within a few days.

When the researchers inserted a special protein designed to mimic TDP-43 into the neurons, the cells came back to life and returned to normal.

That has sparked fervent interest that the treatment could possibly be used to slow down or even halt the disease.

It's a big step for the 15,000 Americans living with ALS, which has no cure and usually ends up killing patients two to five years after they are diagnosed.

Professor Wong said the next step would be to conduct more experiments to see if the mimicking protein could be used as a therapeutic model to treat mice as a whole organism, rather than just cells.

If that goes well, it would move into clinical trials on people.

And with such a large amount of money just now being allocated to the research community, those trials are already funded.

Despite its enormous attention on social media, ALS is a relatively rare disease. About 7000 Americans die from the disease each year, says the Centres for Disease Control - about two in every 100,000 deaths.

That is partly why it was so surprising to see hundreds of celebrities and politicians get caught up (and drenched) in the cause.

The campaign helped the ALS Association collect $US115 million last year, a 4100 per cent increase in fundraising from the $2.8 million collected in 2013.

Critics have argued that such large attention to the single cause of ALS leads to "funding cannibalism" - that money given to the ALS cause is diverting resources to other research areas, perhaps for a disease that affects more people.

Professor Wong argued, though, that the money was not coming from a fixed pie.

"In other diseases, you can take similar strategies to bring about awareness and have people come in to support it," he said.

"This helps to drive other foundations to promote their cause. It's doing more good than bad."

The researchers also believe that understanding these proteins could have much broader impact beyond the ALS community. Professor Wong said other diseases - such as Alzheimer's , muscular dystrophy and inclusion body myositis - might also benefit from the treatment.

"The lesson that we learnt can be applied to other human diseases," he said.

"There's a much greater number of people affected by this."

Washington Post