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Research
Cure MVID
Welcome to the page dedicated to scientific and medical research on MVID.
Cure MVID Association is dedicated to supporting and informing MVID researchers, clinicians and educators. Here you'll find research resources, summary information, references and other information to help with your MVID research.
MVID is an ultra-rare disease, so research efforts are not the same as for much more common diseases.
The phenotypes of MVID are increasingly well understood by researchers, and diagnosis of the disease (by high-throughput genomic sequencing) is becoming more and more widespread in every country, allowing a certain number of newborns to escape the diagnostic wandering that existed just a few years ago.
Research is progressing, but not enough to have led to the discovery of a cure for the disease.
The vocation of theCure MVID Association Association is to catalyze these research efforts and bring together experts from all over the world to advance more effectively on the road to therapy.
A monogenic disease
Thanks to research work, we now know exactly which genes cause MVID.
It's fortunate that only one gene is involved in the disease, as this allows us to target it (or focus on its role in the cell). It's easier to find a treatment in this case than when the disease is multigenic or without an identified gene.
It's fortunate that only one gene is involved in the disease, as this allows us to target it (or focus on its role in the cell). It's easier to find a treatment in this case than when the disease is multigenic or without an identified gene.
1
Determined researchers
Many researchers around the world (doctors, biologists and pharmacists) have developed expertise in MVID and are working to understand the pathophysiology of the disease in order to find a cure.
2
The intestine, an accessible organ
MVID causes a deficiency in the intestine, which is a relatively accessible organ (particularly by the oral route), unlike certain tissues (e.g. the brain) which are much more difficult to reach by treatment.
The fact that the treatment must reach the intestine (without having to go further) is an opportunity in the development of oral therapy.
The fact that the treatment must reach the intestine (without having to go further) is an opportunity in the development of oral therapy.
3
Correcting the mutation corrects the disease
Transfection of wild-type proteins into MVID-mutated organoids has been shown to reverse disease pathophysiology and restore intracellular polarity and trafficking. This proved that reintroducing a healthy, unmutated protein restored normal intestinal cell function. The disease is therefore reversible!
4
All these elements are reasons for inestimable hope for all MVID patients, and it is on the basis of these pillars that we hope to build research projects and find a therapy for this disease.
Affiliated Association
