Catalan researchers discover a new genetic brain disease
It is a rare disease that can cause neurodevelopmental disorders
BarcelonaA research team from the Bellvitge Biomedical Research Institute (Idibell), with participation from Bellvitge Hospital, has identified a new rare disease previously unknown worldwide. The condition has so far been confirmed in only 13 people from eight unrelated families, one of whom is a patient at Bellvitge Hospital.
The key to the discovery lies in the RPS6KC gene, essential for lipid and protein metabolism. Its alteration causes a wide variety of neurological symptoms, which has made it difficult to establish a clear relationship between the genetic mutation—the genotype—and its clinical manifestation—the phenotype.
The manifestations of the disease are highly diverse: they range from severe congenital forms, incompatible with life, to cases of spastic paraplegia—a neurological disease characterized by progressive rigidity and muscle contraction in the legs—or even cognitive and behavioral impairments. However, most patients share clinical features with Coffin-Lowry syndrome, another rare genetic disorder associated with congenital malformations and intellectual disability of varying severity.
Twelve diseases detected
This is the twelfth rare disease discovered by this Idibell team, thanks to the application of next-generation genome sequencing technologies and new computational algorithms developed by the same group. For example, the use of GeneMatcher, a global platform that connects clinicians and researchers worldwide to identify similar cases and accelerate discoveries, has been key to connecting the Bellvitge patient with other patients.
"Knowing the gene and its function in a healthy organism is key to understanding what goes wrong when it is mutated, and knowing this puts us one step closer to finding effective therapeutic strategies for patients with this disease," explains Dr. Aurora Pujol, director of the Idibell study and researcher at the Biomedical Research Networking Center for Rare Diseases (Ciberer).
"Furthermore, putting a name to the cause of this new disease allows us to provide a genetic diagnosis for patients who had gone years without an answer "Clearly, in this case more than 10, and that is very gratifying," adds Dr. Valentina Vélez de Santamaría, the neurologist at Bellvitge Hospital who has been monitoring the Spanish patient.
The research, funded with public funds from the Carlos III Health Institute, through the Impact Genomics program and by a fund TV3's Marathon for Rare DiseasesIt has involved the participation of research centers and hospitals from the United States, Italy, Germany, the United Kingdom, Iran, Finland, Estonia, Pakistan and Turkey.
