Recent key advancements in research on rare diseases

Interviewer: With us today is Prof. Hugo Bellen from Baylor College of Medicine, whose research focuses on developing genetic tools to investigate the mechanisms underlying rare diseases. Prof. Bellen has joined us today to share an overview of the current state of research into rare diseases. Prof. Hugo Bellen, thank you so much for joining us today. Prof. Bellen: Thank you. Interviewer: Looking back at the past year or so, can you share with us what you consider to be some of the most important developments in the field of rare diseases? Prof. Bellen: The main issue that made the press was a CRISPR therapy, where a disorder called CPS1 was treated with a gene edit. What was done is—this gene is required in the liver and causes a metabolic disease—and so using CRISPR therapy, and to my knowledge, the first one, they were able to correct the genes in the liver of the child, and apparently, that led to a significant improvement. The hope is that this child will effectively be cured, whereas in the past we needed to do a liver transplant in those kids. That is hopefully not the case anymore. This is really a high-profile example of personalized medicine and it's going to become a reality more and more. But in order to expand this and treat diseases of the brain and other organs, we have a lot of work to do. The liver is an easy target, so is the eye and the ear, but the brain is a much more difficult target to correct genes, especially if the gene is required in all cells. This will need some deep and probing experiments to be done to