Matthias Lambert, the researcher who unlocked the key of his personal uncommon illness | EUROtoday

Because at the moment, he “fights disease through research”, he nonetheless tells us. A profession selection that owes nothing to probability. As a young person, he remembers seeing in “the white coats of the researchers he met at the Généthon (a non-profit laboratory created by an association of patients and relatives and financed 80% by donations from the Téléthon, Editor’s note) superhero capes”. It have to be stated that it was “the first time that I met people in white coats who did not give me bad news, who told me that they were going to work to find a treatment: I wanted to be those people, the ones who give good news to patients. I think it always stayed in the back of my mind. »

At 25, he discovered the cause of his own illness

So much so that, after high school, he embarked on scientific studies in Lille, then a doctorate. Although many think that his illness will constitute, at one point or another, too great a handicap, he hangs on, helped among others by his mother. In The Fight of a Lifetimehe maintains that she passed on to him “the gene for resilience”: “She always told me: “Your legs will never work the way you want them to, so you have to work on your brain”. She all the time taught me to all the time push by means of and by no means surrender in your desires, she all the time supported me. I feel this studying is beneficial to me in my on a regular basis work. »

It was barely 25 years previous, whereas he was in the midst of analysis for his thesis, that his consecration got here. Through readings, Matthias Lambert acknowledges himself within the signs of sufferers for whom we all know the genetic explanation for the illness. In his laboratory, he requested if it was potential to sequence one in every of his genes, TPM3: “It was a gamble, because we have around 20,000 genes: it’s a bit like looking for a needle in a haystack. » Bingo: his does have a mutation. More than a victory, it is “a revenge on illness, on life. » After his doctorate, he flew to the United States, and worked for Harvard Medical School and Boston Children’s Hospital. Today, he continues his research within the private laboratory Vertex Pharmceuticals, which specializes in cell and gene therapies.

An extremely rare disease with no name

Very distant is that night in the summer of 1990 when Matthias Lambert was born in Saint-Omer, in the north of France. Very distant is, also, this first diagnosis of Werdnig-Hoffmann disease, a rare and serious genetic condition which causes severe muscle weakness in infants and which drastically reduces their life expectancy. And that, a little later, of his “congenital myopathy with disproportion of muscle fibers”. “In all, there are a little more than 300 myopathies, with very different severity and symptoms. Mine is very rare. So rare, in fact, that we didn’t even give it a real name and preferred to give it this extended label,” laughs the researcher.