New Research Options for Bernard-Soulier Syndrome Come in a Very Small Package

Do you love cheese? Have an irrational fear of cats? Are able to wiggle your nose? As humans, we share more than a few surface-level characteristics with the common house mouse. And according to an online article from Queen Mary University of London, that is a very good thing for the continued research of rare diseases like Bernard-Soulier syndrome.
Bernard–Soulier syndrome (BSS), or hemorrhagiparous thrombocytic dystrophy, is a rare, inherited disease that affects the blood-clotting process. People who struggle with BSS are missing or have a malfunctioning glycoprotein Ib (GpIb) which is the receptor for von Willebrand factor. As a result, unusually large platelets don’t stick to the damaged blood vessel wall correctly when clotting. To read more about this rare disease, click here.

How does the common mouse figure into all of this? These tiny mammals, with the wiggly whiskers, have a genetic blueprint that is very close to our own species. In an ongoing study, a group of researchers is comparing what is already known about mice genomes and testing for similarities or differences on a molecular level. By isolating a specific gene, and reviewing it in a variety of mice, scientists are seeking a connection between a gene that might be linked to the creation of the human version of a certain disease.

By studying the potentially altered genome, scientists will have a better idea of what might cause a rare disease and how to develop new treatments.  

Through the isolation of single genes, scientists are developing a catalog of data for a number of diseases not previously identified in mice. Recently identified genomes include Bernard-Soulier syndrome, Charcot-Marie-Tooth disease, Bardt-Biedl syndrome, and Gordon Holmes syndrome.

The ongoing research is an important development in the understanding and hope for new rare disease treatments for scientists, and patients. Read more about the discoveries published on Queen Mary University of London’s website, here.


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