“Join TECNALIA on this day of awareness-raising and solidarity”
TECNALIA on World Fragile X Day: commitment to research and inclusion
Every July 22, the world commemorates World Fragile X Day, a date dedicated to raising awareness of this genetic condition and promoting the inclusion of those living with it.
TECNALIA joins in this global initiative. highlighting our ongoing commitment to research and innovation in the field of genetics.
Genetic diagnosis and an inclusive future for everyone
The TECNALIA genetics laboratory dedicates a significant part of its resources to diagnosing this disease in the postnatal, prenatal, preimplantational and preconception stages.
Preconception diagnosis is aimed at couples who wish to know their mutation carrier or non-carrier status before starting their reproductive project. This information will enable them to find out the risk of transmitting the syndrome to their offspring and thus choose the safest reproductive option to minimise this risk.
As we celebrate this milestone, TECNALIA reaffirms its commitment to the global medical and scientific community in terms of moving forward in our understanding of genetic diseases and promoting a more inclusive future for everyone.
Fragile X syndrome
Fragile X syndrome, also known as Martin-Bell syndrome, is caused by a silencing of the FMR1 gene, located on the X chromosome, as a result of the presence of mutations to the gene, the most frequent being the repeat expansion and subsequent methylation of trinucleotide repeats (CGG)n in the 5' region. This mutation affects the production of a protein that is vital for proper brain development.
First described in 1943 by scientists James Purdon Martin and Julia Bell, the syndrome has variable clinical features, but generally presents with mild to severe intellectual disability, which may be associated with behavioural disorders and characteristic physical features.
Fragile X syndrome affects people of both sexes. However, since the type of inheritance is X-linked, it is more prevalent and severe in males, due to the chromosomal configuration.
Together we are working to make a difference to the lives of those facing genetic challenges such as Fragile X Syndrome.
