Speak there Dr. Francesca Torricelli, which he founded and directed la "Genetic diagnostics" of the Careggi Hospital
The Careggi “Genetic Diagnostics” in Florence is today a center of excellence in Italy for hereditary heart disease, and is an integral part of the team that allows us to reconstruct the familiarity of hypertrophic cardiomyopathies and to act as a powerful prevention tool. Francesca Torricelli, who managed the structure until 2016, followed its developments and extraordinary evolution over almost forty years.
It was 1980 and at the beginning there were only three. In recent years they have over fifty employees including researchers, managers, technicians and fellows: it is Sod “Genetic diagnostics” of Careggi which studies hereditary diseases, genetic variability and develops research projects at international level. Its growth has gone hand in hand with the advances related to the knowledge of the human genome, still evolving since 2003 when the gene map was declared complete. He has achieved a high specialization in some very particular pathologies: the hypertrophic cardiomyopathy is among them. "Genetics laboratories have a technology applicable to the diagnosis of all hereditary diseases, but in reality each laboratory focuses on some of them and not others to study them in depth", explains Francesca Torricelli, director until 2016. With her group has experienced the development and acquisition of all phases of the enormous growth and specialization of genetics. Francesca started in Careggi with the analysis of chromosomes and then immersed herself in the study of the gene. “There can be pathologies that derive from one or more genes; or mutations occurring at one point or another. Each of these gives rise to more or less serious diseases ”. And for the geneticist it is very important to know them thoroughly. "As genetics have progressed it has shown that the heart is not linked to a single gene, but to many," and each mutation gives rise to particular clinical signs, Torricelli continues.
The need for specialization is clear, but why does a genetics center decide to focus on one pathology rather than another? "The answer is simple: if you have a great expert in cardiology, it is the clinician who stimulates and directs research on heart diseases". He becomes the center of attraction. This is how it happened in Careggi. “It all started with Franco Cecchi and Iacopo Olivotto, a young executive at the time, who needed a good diagnostic structure”. Cecchi was then in charge of the Regional Reference Center for Cardiomyopathies, and an expert in the various forms of hereditary hypertrophic cardiomyopathies. A genetics service was needed to investigate the cause and Careggi's SOD of genetic diagnostics developed a specific area for the hereditary genetics of these heart diseases.
"It is not genetics that makes a clinician grow, but it is the latter that encourages the diagnostic service to develop its own structure" Torricelli emphasizes. And so after the heart came the retina, then the study of haemophilia, as well as some rare hereditary pathologies: all specializations, “strong” areas of Sod di Careggi. “The same methodologies are used in the laboratory, but some sectors deal with specific pathologies”.
This is how it works for hypertrophic cardiomyopathies. When the cardiologist suspects a case of heredity, he immediately contacts the geneticist. The latter begins a meticulous reconstruction of the patient's family tree (called "Index") up to the third generation. Once the examination has been performed, if the mutation is identified, the response will be returned in a multidisciplinary way: cardiologist and geneticist. From there begins the consensual and informed involvement of all relatives in search of the genetic mutation. "The procedure is simple: a blood sample is taken, the DNA is extracted and the potentially responsible gene is analyzed." In this way, genetics "becomes a powerful family prevention tool" where the disease has not yet revealed itself. (by Laura D'Ettole)