Genetic mapping should revolutionize diagnosis of rare diseases

Unfortunately, despite all the scientific and technological advances of the last decades, there are still many health problems whose causes are unknown and for which there is no treatment. However, the haphazard partnership formed between a father who is uncomfortable with not finding a diagnosis for his son's disease and a geneticist specializing in bioinformatics has changed this scenario. This is because the “diagnostic odyssey” experienced by the two led to a revolutionary approach based on the genome mapping of patients and their parents to not only identify the source of the problem but also help in selecting the best treatment.

Hidden Answer in DNA

According to Sarah Elizabeth Richards of Wired, it all started about 10 years ago, when Massimo's nervous system, just 11 months old, collapsed and no doctor could find a cause for the problem. In just 90 days, the baby lost the ability to crawl or sit alone and could no longer communicate. The little boy underwent all sorts of tests, including CT scans and muscle biopsies, had tubes inserted in his little body, and who knows how many injections, anesthesias, and stings the poor guy took while the various experts tried to figure out what he had.

The doctors concluded that the boy possibly suffered from a class of leukodystrophy, a genetic disorder that causes degeneration of the white matter in the brain. But tired of seeing his son suffer and unwilling to know exactly what was causing the problem, Stephen Damiani, Massimo's father - and professional risk management expert - set out on his mission to find out what was behind the problem. devastating illness of the child.

Not knowing what to do with the data, Stephen invested $ 10, 000 at the time to map Massimo's genome. The child's father began to work on the immense amount of information generated from the boy's DNA - both to find out what mutations were responsible for the child's condition, and to find out if he and his wife were carriers of the genes and could pass on them. the problem for other children if they were to expand their families - and quite by chance and pure luck, their story fell on geneticist and bioinformatics expert Ryan Taft.

Diagnostic Odyssey

If a person's genome sequencing can be done today in 1 day, 10 years ago, the Genome Analyzer, which was used for this type of work, was able to map around 10 genomes a year. The cost of the tests was quite prohibitive, and besides, the available genetic databases — species of catalogs containing the DNA information of thousands of individuals that could be used for scientific purposes — were still in their infancy. Not to mention the computer processing capacity and availability of software, algorithms, etc. was dramatically lower than today.

But the 2 men set off on a real odyssey to try to figure out what the problem was with Massimo and, after about 3 years of research, contacts with experts from around the world, testing, developing new technologies and a lot, a lot of dedication. and persistence, Taft and Damiani were able to define Massimo's diagnosis: 2 variations in a gene called DARS that had never been associated with disease in humans. After the discovery, around 20 children were diagnosed with the same Massimo mutation worldwide.

Legacy

Thanks to the definition of the diagnosis, the specialists dealing with Massimo were able to propose and test treatments for the boy, as well as establish a prognosis of his condition. But it was not just that. Identifying genetic variations allowed the child's parents to break out of isolation and find other families suffering similar mishaps and establish support networks and information exchange. The Damiani couple also found that Massimo's leukodystrophy was not caused by genetic inheritance, meaning that they did not risk passing on the mutation to other children.

Unfortunately, Massimo passed away in 2015 at age 9, but the odyssey to discover the cause of his condition has given rise to a revolution that, while still taking its first steps, promises, through genetic mapping, not only to help diagnose super rare syndromes, such as identifying diseases even before they manifest themselves and developing specific therapies to treat each case.

Promising future

To have an idea, it is estimated that 400 million people worldwide suffer from some kind of rare condition, and of these, 80% live with syndromes caused by defective genes. Until very recently, the incentive to research and find cures for many of these illnesses was small due to the small number of individuals affected, and only 5% of these health problems are treated at all. But that has been changing rapidly with increasing interest in developing new therapies and more and more medications are reaching patients.

Today, Taft is in charge of a company in San Diego, California, called Illumina, and its mission is to provide all children - and people - of the rare disease world with access to genetic sequencing and data processing so that their conditions are properly diagnosed, leaving these tests out of laboratories and reaching hospitals, clinics and clinics on a global scale.

Manufacturers of genome mapping equipment ensure that device costs are expected to fall over the next few years, making the technology more affordable. Moreover, the possibility of scaling up AI and machine learning specialists to join the initiative to use DNA scavenging machines for genes that do not work as they should will certainly lead to a breakthrough in this new approach to diagnostics. And, ultimately, the investment being made now may mean that, in the near future, research and treatment of rare diseases will become less frustrating, costly and painful for patients and their families.

Genetic mapping should revolutionize diagnosis of super rare diseases via TecMundo