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  • Writer's pictureMKosla

Setting the scene: Rare Diseases – fundamentals

- There is estimated 8000 rare diseases, affecting 6-8% of society (and according to estimates of US NIH, even 10 000 = 10%). 80% has genetic background.  [1] [2] It is a huge social problem of millions of families feeling alone globally.

- Today, 95% of diseases has no treatment. It is said that in 60% cases, Whole Exome Sequencing does not give an answer about a root cause.

- But for many there is treatment under development! Many biotech and pharmaceutical companies, big and small, are engaged in hundreds of drug discovery projects. Last year eg. first drugs for Ataxia Friedreicha and Duchenne became available for first groups of patients.

- Nevertheless, it is said that business can be interested in the diseases with prevalence > 1000 cases in developed countries (where reimbursement is available) – it makes it potentially profitable case. While there is still the LONG TAIL of the rest – ultra rare diseases usually without names and without any therapy recommendations.

- There is more and more institutions noticing this problem (eg. nLorem Foundation, Oxford University announcing accelerator for rare diseases not excluding ultra rare, European EP PerMed program). There is however undisputable role of patient-led collaborative research networks.

- Why this is so hard to find a cure for most common rare diseases, even though there is relatively huge investment of big corporate players and public funds? The basic answer is: because science is not straightforward. But also many much more common diseases than PACS2 syndrome, have much more complex genetic background. Situations are: not all genes leading to a disease are already defined, or there are multiple genes involved in a disease, or a mutation is in both alleles (both from mom and dad) and it is different in each allele, or a mutation itself is hard to cure (eg. big deletion or reorganization of exom) and there are sometimes hundreds of patient groups with different mutations in the same gene.

- Why for PACS2 syndrome should be easier? Because most of patients diagnosed have single point mutations – change of one letter only. And 95% of those have exact same mutation (p.Glu209Lys), and the others have also same mutation (p.Glu211Lys) being very similar mutation located not that far away. And still – science is not straightforward, there is no guarantee to find something. But there much more options in for diseases as PACS2 syndrome.




*movie on basics on Whole Exome Sequencing, Exome and different mutation types:

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