February 28th is Rare Disease Day

This month was chosen because February is a rare month!

It has only 28 days, in leap years it has 29 days, and so the last day of February each year was chosen to be World Rare Disease Day.

The World Health Organization (WHO) defines a rare disease as one that affects up to 65 people per 100,000 population. In the United States, a disease is considered rare when it affects fewer than 200,000 people. An important point is that there are many diseases already identified as rare (more than 7,000), and most have a genetic cause. This date is important to raise awareness of the millions of people around the world living with rare conditions that are difficult to diagnose, and many still have no cure.

ARTIFICIAL INTELLIGENCE WILL HELP!

There are promising prospects for using AI (artificial intelligence) to support researchers, whether to help identify genetic mutations difficult to detect using traditional methods or to support diagnostics (interpreting imaging tests, etc.). AI also has the potential to aid in the discovery of new molecules that could become drugs, or even to evaluate existing drugs that could be used for rare diseases.

In the field of gene therapies, there is extensive research into RNA-based therapies capable of "correcting" or at least mitigating the impact of genetic mutations. One example is ASO (antisense oligonucleotide) therapies, which can be tailored to each patient and use messenger RNA to "silence" genes with disease-causing mutations without modifying the patient's DNA. The Dutch company VICO Therapeutics is already testing its ASO therapy (VO 659) in human patients with diseases caused by expanded glutamine (CAG) repeats, such as Huntington's disease and the spinocerebellar ataxias SCA1 and SCA3. If the technology proves effective and safe, patients with SCA3 (Machado Joseph) ataxia could have only the mutated allele of the ATXN3 gene silenced, preventing the expression of the malformed ataxin-3 protein, which is toxic to neurons, causing cellular dysfunction or even nerve cell death and producing ataxia symptoms. Learn more at https://vicotx.com/

More advanced treatments are also being researched, such as CRISPR gene editing, which allows DNA sequences to be altered with great precision and has the potential to cure or prevent genetic diseases.

Another area where AI has the potential to help is genome sequencing , as it can analyze and detect patterns in huge volumes of data. Rapid AI-assisted genomic sequencing can accelerate the identification of genetic problems across a patient's entire genome (3 billion base pairs of DNA), whereas traditional genetic panels focus only on specific groups of genes to attempt to diagnose genetic diseases such as many types of ataxias. These new techniques allow doctors and researchers to identify more genes that can cause disease with greater speed and accuracy, thus increasing the possibility of definitive genetic diagnoses. Thus, for example, some ataxias that are idiopathic (cause unknown) could be reclassified as some type of hereditary ataxia, with a genetic basis, with a possible diagnosis.

Science advances!

To all who have or care for someone with a rare disease, ataxia.info wishes you a wonderful February 28, 2025, and we'll share this post—the more visibility, the better! Those who are invisible are forgotten.

Márcio Galvão (administrator of the ataxia.info portal)