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I would also like to start this section thanking a person I admire very much even if I still do not know him personally. He is Dr. Weinstein (I call him Dr. W, you can see him in the video I leave below!). He is the best expert on GSD in the world. He is now working in the University of Connecticut and in Connecticut Children Medical Center with an excellent team to whom I also thank very much. Doctor Nerea works with him once in a while and they are in frequent contact.

Doctor W and his team have spent many years researching GSD. He has achieved many things and received many prizes. Unfortunately, being a rare disease with a low number of patients, most research companies are not interested since they may not have too much profit out of it. This is why a lot of support and funds are urgently needed for research, especially for GSD type 1b, which is even rarer than the others.

One of the main research projects is the “gene therapy”. In my case, it is in vivo somatic gene therapy to treat the glucose problem and ex vivo to treat neutropenia.

No worries! I will also explain this with baby words 🙂

As I mentioned before, I have a mutation in one of my genes so my liver is not getting the right information to work properly and it is not breaking glycogen down into glucose. The idea is to put inside my body (in vivo) the right version of my mutated gene.

This gene is introduced in a virus which viral component has previously been removed. The virus is inserted into my liver to leave the right gene inside. This gene modifies certain liver cells so that they start working properly. This is how my body will be able to produce glucose and avoid hypoglycemia.

This is not called a cure but a therapy. It will not cure me for good but it will make my body work properly for years. After some time I will need some reminders (as if it was a vaccine) to reintroduce the right gene into my body again.

This therapy has been tested in mice and dogs for several years. Watch the following video in which Dr. W explains the gene therapy and you will see how these animals suffering GSD and having severe hypoglycemia are treated with the right genes. Not only they quickly get better but they also manage to maintain this improvement for long time. The levels of glucose in blood remain stable and the storage of glycogen decreases. Overall, all indicators improve.

All this would help me a lot and would also be useful as a model to cure other liver diseases. Currently, these tests are being carried out for GSD 1a. We hope all will go well and that the gene therapy can also be developed for GSD 1b. This will require further research so more funds are needed.

In my case, even if the liver problem was solved, I would still need to deal with the neutropenia. For this challenge we cannot use the same approach because the problem is not in the liver but in the bone marrow. The virus used to introduce the right gene in the liver cannot be used for the bone marrow. This is why the method consists on extracting the bone marrow’s stem cells and once outside the body they go through gene therapy. Some of these stem cells are modified and start working properly. They are reproduced to get millions of them and they are reinserted in the bone marrow which becomes more functional and results on a stronger immune system.

Other ongoing research projects:

  • More effective treatments for Inflammatory Bowel Diseases
  • Change the Neupogen shots for a medicine to be taken orally
  • Build a glucose monitoring device which can control glucose levels without shots to get blood
  • Find products more effective than cornstarch and with better flavors