My name is Giulia Pucciarelli and I am thirty years old. In the first months of 2017, during a medical examination for sport, doctors detected abnormal beats, suspecting they could be arrhythmias of the right ventricle (Arvd), which they would confirm my symptoms of fatigue and shortness of breath, with the risk of sudden death.
Unfortunately, cardiologists could not formulate a precise diagnosis. Therefore I tried other ways.
After some initial diagnostic genetic tests, which turned out to be negative, I contacted Prof. DallaPiccola, a prestigious genetist, who prescribed more detailed genetic investigations (clinical exome) extended to my parents (so-called Trio), confirming the existence of some variants of uncertain meaning. Research in the field of cardiology and genetics is making great strides and I am confident that one day I will no longer be an "orphan of diagnosis", but most of all an "orphan of therapy".
My personal experience made me understand that my / our health depends more and more on how much we have inherited from our family, and how important it is to know and take care of our genes.
That’s why we formed, together with my father and some friends, "Patforgene - Association Patients for Genetics", a non-profit Association, with the aim of helping patients of genetic diseases, even rare or at the moment still without diagnosis, through the development of the scientific research for genetic diagnostics and therapies, protecting the rights of patients, in all respects.
There is so much to do for patients.
Our first initiative is genetic testing for family members of rare diseases, in order to identify those relatives who will develop the disease in the future. Indeed, in some cases early diagnosis allows medical treatments that can delay or completely prevent the onset of the disease. Moreover, through these tests it is possible to identify the healthy carriers.
The American College of Obstetricians and Gynecologists (ACOG) recommends genetic diagnostic screening for family members of some genetically transmitted diseases, especially for those who are planning to have children. Some Associations of genetic diseases have been suggesting for some time a genetic screening for their associates’ relatives, with the purpose of figuring out whether they are healthy carriers of the disease. So far, we have identified two international Associations, which have launched this campaign: "American Hemochromatosis Society" and "Parent Project Muscular Dystrophy". Our goal is to raise awareness among all the associations of patients and family members on the utility of genetic diagnostic tests.
And something about me
Maurizio Pucciarelli. Pharmacist and lawyer. I love genetics and I deeply hate illness. I dream of healing for all patients. Co-founder of Patforgene.
The Association “PATFORGENE - Association Patients for Genetics” has as its purpose the protection of the interests of patients of genetic diseases, even rare or not yet diagnosed, by way of example:
a) encouraging the development of research into new and improved diagnostic tools, drugs and genetic or substitute treatments at hospitals, research centers and pharmaceutical companies.
b) accelerating, fostering, spreading the knowledge among patients and the public of new discoveries in the genetic field, diagnostic tests and gene therapy as well as the rights and duties of patients also in relation to the right of access to care.
c) sensitizing the national and foreign political institutions for the approval of regulations for the adaptation of resources and for the protection of genetics.
d) promoting contacts with international Universities, world health institutions and patient associations for the development of personalized genetic therapies.
e) protecting the rights of patients not yet diagnosed, as well as related associations, in order to promptly diagnose and treat, through genetic techniques, diseases that are not known the cause, as well as the recognition of the regulatory and health of said pathologies for the insertion of the aforementioned patients into international, national and local health care plans.
f) promoting, disseminating and supporting scientific research related to genetic techniques, exemplifying the interaction among all interested parties, including foreign ones, including bioinformatics companies and universities, public and private consortia born for genome mapping, biomedical apps for the dissemination of genetic data of familiarity and population, as well as pharmaceutical companies engaged in the study of substitution therapies through the analysis of the metabolome, personalized genetic therapies and any other future scientific discovery or application.
Genetic can be any genetic technique, however named, present and future, exemplifying the genome, transcriptome, proteome, metabolome and immunotherapeutic techniques, innovative drugs, gene therapy, pharmacogenomics, predictive genetic tests, having as its object or objective the research, diagnosis, classification, treatment of rare diseases and syndromes, including those not yet diagnosed, as well as the healthy carriers of pathologies, reproductive genetic compatibility and prevention of disease onset.