Scientific breakthroughs from ALS Ice Bucket Challenge

Scientific breakthroughs from ALS Ice Bucket Challenge

A year after the phenomenal global fundraising campaign, scientists are crediting the ALS Ice Bucket Challenge and the accompanying public interest for modern breakthroughs in ALS research.

It was in August 2014 when the research campaign went viral on several social networking websites. Dubbed as the Ice Bucket Challenge, the campaign dared people to do either of these two: Donate $100 for charity or film the particular challenger while dumping a bucket of ice water on his or her head.

The campaign was phenomenal for several reasons. Apart from the social media frenzy and the participation of high-profile celebrities, politicians, and business moguls, the Ice Bucket Challenge has stirred support for the ALS Association, a non-profit organisation that raises money to fund research aimed at fighting a rare disease known as amyotrophic lateral sclerosis or Lou Gehrig’s disease.

ALS is a disorder that involves the death of neurons further characterised by stiff muscles, muscle twitching, and gradually worsening weakness due to muscle wasting. This results in difficulty speaking, swallowing, and eventually breathing.

According to a statement last year from ALS Association, the organisation received $13 million in donations last year between July 29 and August 17—a notable increase in funding compared with $1.7 million in donations received during the same period in 2013. A 2015 news report from the Washington Post by Robert Gebelhoff mentioned that the juggernaut campaign has raised $220 million globally with $155 million going to the ALS Association, an amount that has given scientists the financial stability to pursue research and experiments aimed at further understanding ALS and finding a possible medical breakthrough.

It would be very difficult to fund ALS research without the campaign simply because the disease is rare and thus, most people have never heard of it. Furthermore, ALS is a very complex disease to discuss and explain. ALS has no survivors or even diagnosed patients who have the physical capacity to serve as public speakers.

But the funds generated from the Ice Bucket Challenge are fuelling on-going research and novel significant research discovery. For instance, the study funded by ALS Association and conducted by John Hopkins researchers J. P. Ling, O. Pletnikova, J. C. Tronkoso, and P. C. Wong demonstrated the functions of TDP-43 and further uncovered the biological phenomenon behind ALS.

As a backgrounder, the TDP-43 protein binds and regulates RNA, the cellular messenger that converts genetic instructions into proteins. Most cases of ALS are characterised by accumulation of TDP-43 into clumps, or aggregates, thereby indicating that the protein is unable to carry out its normal function.

The researchers further uncovered that TDP-43 also binds to and repress cryptic exons—bits of genetic instruction that are not used to make protein under normal circumstances. The lost of this protein increases the expression of cryptic exons leading the cell to destroy messenger RNA containing them, thus reducing the amount of normal protein the cell made, and leading to cell death. They also found an abnormal increase in cryptic exon expression in the brains of people with ALS.

In finding a workaround, the researchers inserted a protein specifically designed to mimic TDP-43 into the neurons. Interestingly, the cells came back to life and returned to normal. This demonstration opens the possibility for a treatment that could slow down or even halt the progression of ALS.

“This intriguing result provides a new understanding of the normal role of TDP-43,” said Lucie Bruijn, chief scientist at ALS Association. Because TDP-43 accumulates in most cases of ALS, it is critical that we learn more about its normal functions, and how they are affected in ALS. Replacing those lost functions may be a therapeutic strategy.”

Since 2014, the ALS Association has committed millions of additional dollars to support ALS research around the globe, including four collaborative research initiatives to build understanding of the disease, target new therapies, expedite clinical trials, and make DNA and RNA sequencing data available to the entire ALS research community.

Note that there are five key areas of focus identified by the organisation: gene discovery, disease model development, identification of biomarkers, clinical trials, and drug development.

The organisation has also funded four global research initiatives. These include the Project MinE, a global sequencing effort aimed at identifying genes linked to sporadic and familial ALS; The Neuro Collaborative, three research laboratories working together to find effective treatments; The New York Genome Center, a repository for ALS genome sequencing data that increases number of genetic samples scientists can study; and ALS ACT, a joint project aimed at expanding clinical trials and searching for biomarkers as indicators of disease.

Apart from accelerating research, portion of funds generates from the Ice Bucket Challenge is coursed through initiatives aimed at expanding the care for people living with ALS. These include doubling the grants to ALS treatment centres, expanding access to care in underserved communities, and improving education materials for those people fighting the disease.

The ALS Association is also coursing the funds to initiatives aimed at advancing legislations and regulatory policies, particularly through advocacy campaigns. Furthermore, apart from research grants, the organisation is also supporting scientists and encouraging them to pursue a career in ALS research.

For this year, the ALS Association is replicating the success from last year by launching the 2015 ALS Ice Bucket Challenge. According to the organisation, this campaign will transpire every August yearly until there is a cure.

Further details of the Washington Post report are in the article “Scientists are crediting the ALS Ice Bucket Challenge for breakthroughs in research” authored by Robert Gebelhoff and published on 19 August 2015. Further details of the study of Ling et al are in the article “Neurodegeneration: TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD” published in August 2015 in the journal Science. More information about ALS and ALS Association are published in the official website of the organisation.