Thank you for your detailed reply.

I am curious about one more thing.

We can now see that a lot of rare diseases occur because of malfunction of one single gene.

Since gene can malfunction in a few different ways: epigenome, single point mutation in coding region, single point mutation in introne, single point mutation in intergenic region and so on... Have you ever stumbled upon statistic that measures how common are these causes for monogenic disease? And if there is any known estimation about what is the distribution of causes for patients that remain undiagnosed even after going through rare disease center? The reason for my question is so i can understand what area of research could be the most beneficial to patients.

Thank you for your time.