aHUS alliance was recently represented by its UK affiliate at a major conference in the UK about Complement.
At the Complement UK gathering of prominent Complement Reseachers ,Clinicians and Students the alliance was able show its poster ( see featured image) about the article that has just been published in the Orphanet Journal of Rare Diseses ( see previous blog click here). In doing so greater awareness of the alliance was promoted.
It also provided a chance to learn about the ever broadening subject of Complement as aHUS is one the most prominent diseases mediated by faults in the Complement System.
The talks at the conference reinforced the connection that aHUS has with other Complement mediated diseases like PNH , with which aHUS shares the treatment, Eculizumab ; and MPGN/CG3/DDD with which aHUS an overlap within the disease process. But other diseases such as Lupus, Age Macular Degeneration and Alzheimers are also increasingly being though to have Complement play a part of their development.
The research presentations showed how very small differences in different parts of Complement system pathways i.e. Classical , Lectin and Alternative made people different from a “norm” ,and create conditions in which specific diseases might manifest themselves.
The presentations showed that variants in the same components might be a good thing for one disease, by being protective, and bad for another by increasing risks. aHUS patients often wonder why they onset, but others in their family do not.
The conference message was that too little or too much complement activation can make a good thing go bad.
So small variants make up an individual’s genetic mix will be associated with disease onset, but ,even then, the individual needs a hit from an ” environmental trigger” to spark something off. Individuals may experience many of these hits without anything happening and then one hit breaks through. It is like that saying about terrorism , “society has to be lucky all the time to protect itself , but the terrorist only has to be lucky once”.
The term used to describe this understanding of what risks an individual faces is “Complotype” and knowledge of what is different or similar about it will provide answers and understanding of what aHUS means for the patient and their families.
Prof Paul Morgan in the article “Complement: new therapies and emergence of the complotype” says he” will confidently predict a future where complement will lead the way in stratification of disease and choice of therapy; predicting disease risk and course based upon an individual’s complotype, selecting appropriate individualized therapies based upon complement biomarkers, and managing side effects by targeting therapies to the sites of disease. Much of the groundwork for this next wave is already in place in academic labs – we just need Pharma to catch up! “
So in the future for aHUS patients specific understanding of an individual genetic mix will increasingly determine prognosis , treatment and precautionary counselling.
A more detailed understanding of Complotype can be gained from this published paper by Claire Harris and others, at this link
