LMBRD2 Blog - Toate Postările

Découvrez le témoignage touchant de Mélanie, 32 ans, vivant avec une déficience intellectuelle sévère liée à une mutation LMBRD2. De ses premiers signes à la naissance jusqu'à sa vie d'adulte, son parcours illustre l'importance d'un accompagnement pluridisciplinaire : orthophonie, psychologie, kinésithérapie et sport adapté. Malgré les défis quotidiens, Mélanie mène une vie riche grâce au soutien de sa maman et aux structures d'accueil de jour.

By combining CRISPR knock-in with iPSC technology, researchers can model genetic diseases in the lab, opening new research paths for ultra-rare conditions like LMBRD2.

CRISPR has transformed genetic research by enabling precise DNA correction. A major breakthrough bringing new hope for rare genetic diseases such as LMBRD2.

A brief history: From discovery to Nobel Prize. In 2006, Japanese scientist Shinya Yamanaka made a breakthrough that would transform biomedical research. Working at Kyoto University with his student Kazutoshi Takahashi, Yamanaka showed that adult mouse cells could be reprogrammed back into an embryonic-like state by introducing just four genes—now called the "Yamanaka factors."