By Fiona Waddell
Second World Conference on CDG
By Fiona Waddell
Lyon – For the second time The Portuguese Association for CDG organised a world conference on the metabolic disorder CDG, which stands for Congenital Disorders of Glycosylation. This conference was held in Lyon, France, from the 28th until the 30th of August and preceded the SSIEM Official Satellite Symposia. The aim was to bring professionals, patients and families together. Doctors, scientists and researchers gave lectures about their current research and developments and patients and family members reported on what is interesting to them and the problems they encounter.
The conference was also intended to create greater worldwide awareness around CDG. But how do you get people interested in such an extremely rare disease? During the conference it became apparent that it should be made clear to the world that research into the glycosylation of proteins is also interesting for many other diseases and not just CDG. Some forms of cancer and cardiovascular diseases are also connected to glycosylation. Of the approximately twenty thousand genes in the human genome, the entire genetic information in a cell, no less than a minimum of four hundred genes make glycosylated proteins. Glycosylation therefore has an important influence on the function of the whole human body and by studying CDG, science will achieve a greater insight into the functioning of human cells. That is what makes CDG so interesting to the outside world.
But what patients want the most is a cure for the disease and thanks to many studies, possible therapies are in prospect. Metabolic specialist dr. Morava told at the conference that many problems of patients with PGM1-CDG can be treated with galactose nowadays. Galactose also appears to be a potential treatment for multiple forms of type 1 CDG. This is currently under further investigation.
Sugars, such as galactose, are administered orally, but a lot gets lost on the way to the cell. Agnes Rafalko, working at the young US company Glycomine, explained how using nanotechnology they are encasing sugars with fatty acid capsules the size of a virus. By doing this, the sugar can enter the cell more easily, which also ensures that less is lost. Because the capsules are so small, they can possibly even cross the blood-brain barrier, and thus end up in brain cells. This is positive news because eighty percent of the various CDG forms have neurological problems. This technology is still at a very early stage of development.
In order to think of even more therapies in the future, a study needs to be carried out of as many CDG patients as possible and this needs to be centrally documented. Lynne Wolfe of The National Institutes of Health in the US is working on that. Patients from all over the world can go to the institute where all different kinds of tests will be carried out during the period of a week. The institute will also carry out an annual follow up of the patient to chart the development of CDG in the long-term.
There was of course much more presented at the Conference. All the presentations were filmed and can be viewed at YouTube.
The Third World Conference on CDG will be held on the 15th and 16th of July, 2017 in Leuven, Belgium.