Conquering disease costs money, and the fight against rare conditions is particularly difficult to finance. Big pharmaceutical companies tend to throw their speculative cash at cures which will benefit as many people - potential customers - as possible. Fundraising helps, but is hampered if the public is not aware of the disease.

To this end, Saturday 29 February 2020 is Rare Disease Day, a global attempt to raise awareness. Although ‘rarity’ is defined as affecting fewer than one in 2,000 people, counterintuitively, rare diseases are distressingly common - more than 300 million people worldwide suffer with one or more of 6,000 identified conditions.  

One potential path to solving these lethal problems, however, is to pique the interest of scientists - by challenging them to pool resources and theories in a race against the clock. That’s the idea behind a global rare-disease hackathon, HackingToCureMichael. 

A hackathon is a collaborative event, staged within a specific timeframe, and inviting experts to work together toward a common goal. In this case, the timeframe is from 22 February to 21 March; the experts are medical professionals, pooled in Toronto, San Francisco, Boston, Washington, London, Barcelona and online; and the goal is to save the life of a two-year-old - and hopefully many more after him. 

Michael Pirovolakis has SPG50 - spastic paraplegia type 50, a disorder caused by a missing protein in the AP4M1 gene. It threatens to degenerate the toddler’s brain, throttling his ability to move, speak or even breathe. 

The main hope for Michael is that gene therapy can save him, using a technique that has helped similar disorders: scientists hope to manufacture a benign clinical-grade virus, designed to cross the blood-brain barrier and modified so that, instead of replicating itself, it inserts fully functional versions of the AP4M1 gene into Michael’s brain cells. 

"We remove the contents of the virus and put the gene in, and the virus becomes like a delivery truck that could deliver the gene," explains Dr Berge Minassian, who worked in Michael’s hometown at Toronto’s Hospital for Sick Children before moving to the University of Texas Southwestern Medical Center, one of very few research facilities targeting rare genetic disorders. 

While Michael's family are understandably desperate to raise the seven-figure funds needed for research and testing, and hopeful that the hackathon will help scientists towards a significant step forward, the eventual benefits could be far wider than tackling SPG50 - of which there are only around 50 known cases in the world. 

“Childhood neurology consists of several thousand single-gene defect disorders,” says Minassian.  “We used to lump them together based on symptoms, but now we’re able to diagnose these patients.” 

Another case in point is Maddi Thurgood, a teenager from Essex believed to be the UK’s only sufferer of SPG15, caused by mutations in the ZFYVE26 gene. Maddi’s mother Carina, who has set up the fundraising Maddi Foundation, hopes the next global hackathon will focus on fixing SPG15.

"You just don't stop, the passion of a parent,” says Carina Thurgood. "I would just love the day when they turn round and say ‘We have found the cure,’ and then I will feel that my job is done."

If scientists can conquer these single-gene disorders, it paves the way to curing multiple-gene disorders, such as Alzheimer’s, Parkinson’s and multiple sclerosis. 

"To fix those diseases,” explains Minassian, “we need to learn first how to fix the diseases where single genes are defective, such as Michael's disease. Research in these rare, terrible diseases of children is going to be the springboard for us to figure out how to treat the common diseases that afflict every one of us."

Michael’s family are raising money via www.curespg50.org
Maddi’s family are raising money via www.themaddifoundation.com
www.rarediseaseday.org
www.hackingtocuremichael.com

Originally published by CGTN on 29 February 2020