Using precision medicine to uncover and treat new skeletal disorders
Anne-Lise Berthier
analyste experte biotech/pharma/bioproduction - membre de G&CTI et de Polepharma
Researchers of the “Cell Biology and Physiology-LABRET” group of the University of Malaga (UMA), together with the Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), have described a new genetic skeletal disorder based on a precision medicine strategy. By using methods of massive sequencing –of all genes– they have identified the mutations that caused a rare bone disorder, particularly, the mutations in “LAMA5”, the gene encoding an extracellular matrix protein around blood vessels in skeletal tissue. This disorder consists in an extreme bone fragility combined with a lack of mineralization and skeletal deformity associated with joint dislocation and heart diseases, as well as a pulmonary insufficiency that causes perinatal mortality –at the time of birth.
Using precision medicine to uncover and treat new skeletal disorders