Instituto Bernabeu presents research on the identification of new genes in families with early ovarian failure at the 3rd Congress of Human Genetics

Instituto Bernabeu participates in the 3^rd Interdisciplinary Congress of Human Genetics to be held from November 3^rd to 5^th in Valencia with the research study Exome sequencing for the identification of new variants and candidate genes in women with idiopathic familial early ovarian failure.

This work developed by the team from the Instituto Bernabeu IBBiotech‘s biotechnology and genetics laboratory has focused on investigating early ovarian failure (POF), a common cause of infertility in women that consists of the loss of ovarian function before the age of 40. The research involved 14 women from seven families affected by POF. The studyaim was to identify genetic causes in families with early ovarian failure by exome sequencing.

The researchers have discovered that through whole exome sequencing they have found new genes that could be involved in key biological processes for ovarian function related to POF which had not previously been associated with this pathology. The researchers consider sequencing is an efficient tool to identify mutations in pathologies such as early ovarian failure.

Exome sequencing for the identification of novel variants and candidate genes in women with idiopathic familial early ovarian failure.

R. Morales, B. Lledó, JA Ortiz, F. Lozano, A. Bernabeu, A. Fuentes, R. Bernabeu