[Blood-brain barrier] GLUT1 Deficiency Foundation Conference

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Today was my first day with the GLUT1 deficiency syndrome community, as i attended the professional program. That was a very interesting scientific meeting as GLUT1 is a relative new disease for me and remained fairly cryptic as it is considered as a rare neurological disorder. It also fascinates me as a relative has been diagnosed by it and another may indeed display a form of it.
GLUT1 deficiency syndrome (GLUT1DS) is a particular disease for me, as it is a genetic disease directly affecting the blood-brain barrier (BBB) resulting in an incapacity of glucose to be transported across it, resulting in a deficient energy supply to the central nervous system. It is associated with epileptic-like seizures usually starting early on in children (few months to a couple of years after birth). However, interestingly enough, it is also marked by delayed cognitive development and ataxic features. Such features would easily get unnoticed by a neuropediatrician and may classify it into a type of epilepsy or into a neurodevelopmental disorder.
There are no particular etiology known, there are some genetic background when tracing family history. There are different types of mutations that results in different phenotypes and severity in the clinical settings, making difficult to get a prognostic for the children affected. An interesting thing I have learn is the variety of different types of mutations that have been identified but more importantly the possible prevalence of this disorder. It went from 2 recorded cases in 1991 to over 500 cases in 2015 and there are some estimates that if we look at the whole epileptic patients population (estimated as 50M worldwide) we can estimate number as high as 250’000.
The only treatment known is the ketogenic diet (with a 65% fat and less than 10% sugar) to force the body to rely on ketone bodies as a source of fuel. Thats no fun and often becomes a problem when patients become teenagers. There are been some interesting outcomes using heptanoin and heptanoin derivatives (such as triheptanoin), acting as an anaploretic diet. The interesting thing that remains is to explain the origin of the improvement of certain drug-resistant patients following such diet despite showing no mutations.
Interestingly enough, it seems the disease progresses over time transitioning from a seizure-like type of epilepsy into an exercise-induced dyskinesia marked by a muscle limb painful spasms followed by a transient muscle fatigue.
It was a small conference but it was great as parents of G1DS patients were meeting with professional and the small G1DS community that maybe around 20 PIs investigating the disease at this time. It was a great starter and really let me think how I can use the iPSC platform to bring an additional model that can add the patient-specific aspect to the disease and hopefully better understand the mechanisms underlying such condition. This is the kind of meeting in which you can get to know some of the patients, have these patients directly in touch with the basic sciences and have them see sciences advancing but also opening new questions.
Surely, G1D conference 2017 is my next agenda and looking forward to bring this time something to the community.

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