Research, partnerships, merit, excellence. All our official positions.
What is a genetic disease?
A “genetic” disease is a disease caused by an abnormality in the individual’s genetic makeup (i.e. in that individual’s DNA). Genetic diseases may be due to a defect in a single gene (or a specific segment of DNA that contains information for a given protein), as in the case, for example, of muscular dystrophy or cystic fibrosis. In other cases, the problem may be due not to the sequence but to the “dosage” of genes, as a result of an error in the number of chromosomes. This is seen in Down syndrome, where there is an extra chromosome 21, and in Turner’s syndrome, characterised by the absence of one of the sexual chromosomes. More generally speaking, even so-called “multi-factor” diseases (e.g. diabetes, Alzheimer’s and certain tumours) may include among their contributory factors defects in specific genes that increase the risk of onset of such conditions. Telethon funds research into diseases of proven genetic origin. It does not fund multi-factor diseases. You will find further details in the call announcements section.What is a rare disease?
Rare disease is an epidemiological term. It refers to the incidence of a given disease within a given population. In Europe, a disease is defined as rare when it affects fewer than one in 2,000 people. 80% of rare diseases are of genetic origin. In other words, they are caused by alterations in DNA. Rare forms of cancer or autoimmune diseases (i.e. diseases that occur when the immune system has an abnormal reaction and attacks its own body) may arise as a result of multiple, diverse factors. We can therefore state that all genetic diseases are rare but not all rare diseases are of genetic origin. It has been estimated that rare diseases affect between 27 and 36 million people in Europe, 20 million in the United States and between 1 and 2 million in Italy (Sources: Orphanet, Eurordis, Istituto Superiore di Sanità).Why are rare genetic diseases known as “orphan diseases”?
Because they are rare, these diseases tend to be overlooked by major public and private investments, which generally focus on more widespread diseases. Hence, the term “orphan diseases”. Indeed, it is frequently the patients themselves who draw attention to such diseases.Why does Telethon focus on genetic diseases?
We study these diseases because they are often neglected by researchers. While scientific research in this field is constantly growing, Orphanet estimates that fewer than 1,000 rare diseases currently benefit from even minimal amounts of scientific knowledge. This translates into considerable delays and mistaken diagnoses. Indeed, according to a survey by Eurordis involving 6,000 patients, for a quarter of the cases, diagnosis took between 5 and 30 years.How far has research come for the disease I suffer from?
Scientific research into genetic diseases is constantly evolving. We have set up a service called “Info_Rare” to support anyone with a genetic disease.. You can contact the service via this link to receive information (anonymously, if you wish) concerning the progress of research into a given genetic disease, the institutes in Italy specialised in that disease and in providing assistance. The service is provided by genetics professionals.Why isn’t the disease I suffer from in the list of diseases studied by Telethon?
To ensure the highest research standards, we have adopted a system for selecting projects that is based exclusively on merit. This system means we select and fund the best research projects, without giving preference to any specific disease, conditional upon the disease in question being of proven genetic origin. Hence, the researchers themselves indicate which diseases they intend to study, while the Scientific and Medical Committee selects the projects it deems the best and most promising. So, even if your disease has not been included in any Telethon research project so far, that doesn’t mean it won’t be in the future.What kinds of research does Telethon finance?
We fund research projects of excellence that aim to find treatments for genetic diseases. The high scientific quality of the research that we fund is the result of a rigorous selection process carried out by internationally renowned experts. The scientific results achieved thanks to these investments are internationally acknowledged and reflect the soundness of our methods of selection. To find out more about the Telethon research projects selection process, click here.Does Telethon receive any government grants?
We do not receive any government grants. Since 1998, our institutes have received significant funding for their research by Italian and international institutions dedicated to funding activities within the non-profit public benefit sector. These include the Italian Ministry of Education, Universities and Research, a number of bank foundations, the European Commission and the National Institutes of Health. For more information on Telethon Institutes, click here.How is donors’ money spent?
Since 1990, Telethon has allocated almost 528 million euros as funding for more than 2,630 scientific research projects. Thanks to Telethon’s unflagging efforts in this field, more than 570 genetic diseases have been studied and more than 12,700 articles reporting on the results of this work have been published in leading international scientific journals. The quality of the research produced by Telethon, acknowledged internationally, has led to the development of therapies for a number of rare diseases that had previously been considered incurable, such as ADA-SCID, metachromatic leukodystrophy and Wiskott-Aldrich syndrome. It has also contributed to improving the quality of life of patients with neuromuscular diseases and, thanks to the discovery of the genes responsible, has shed light on the conditions of patients with disorders that previously had no name. Year after year, the results of basic research and pre-clinical studies have allowed research funded by Telethon to progress towards the development of new therapies. Full details of Telethon’s activities, made possible thanks to the funds raised, are provided in the annual report and accounts.Who and what are provincial coordinators?
Our coordinators are people who are particularly active on a local level. They foster public support throughout the year. They must provide information on the progress of research funded by Telethon and organise fund raising activities. We recruit coordinators throughout the year. If you would like to join us, please write to coordinatori@telethon.it. Click here to meet our provincial coordinators.How does Telethon select its partner companies?
Every year, many companies decide to support our research in different ways. By including their names in our list of donors, we merely state how the donation will be used and inform the public of the company’s commitment to support Telethon. We assume responsibility for the conduct of companies that decide to support our research, not in its entirety but only to the extent of the activities and decisions that regard and involve our organisation and our mission.When does Telethon grant its patronage?
Telethon Foundation has decided to no longer grant any patronage, regardless of who applies for it, in view of the growing number of requests and the impossibility of evaluating them adequately on their merits. Patronage is a form of ideal adherence, on the part of an organisation, to initiatives and events considered of importance and interest, and consistent with its mission. In recent years, we have received and granted numerous requests for patronage to patients' associations, research organizations, always free of charge, and other subjects involved in various ways in the field of rare genetic diseases. It was an absolute pleasure, since we considered it a recognition of the work done and the authority acquired in the field. We would like to emphasise that this decision does not go into the merits of individual initiatives and organisations. Rather, in this case, it depends on the impossibility of guaranteeing the rigour that we adopt in all our activities, from the evaluation of research projects to be funded to communication to our stakeholders.
Funding research: other official positions
Animal Testing
Animal testing is a widely debated and often controversial issue. The main arguments for and against animal trials are outlined on our website.
Our alliances
Telethon pursues cooperative strategies to combine its resources and capabilities with those of private undertakings in order to achieve full therapeutic development of its research results. Read more
The brain drain problem
Working abroad is not only important, it can also be advantageous for researchers, since it broadens their horizons as a part of their all-round training. The problem arises when the flow is one-way, when researchers leave because of the lack of opportunities and career prospects at home. Furthermore, countries with few opportunities will not attract foreign researchers. This has negative repercussions not only for the individuals concerned (when, having considered all the alternatives, they have no option but to leave their own country), but also for the country as a whole (inevitable loss of human and other resources). It is worth noting that this loss regards people who have benefitted from state education, sustained by taxpayers. As far as our activities are concerned, we have attempted to tackle the problem through our careers programme, which is named after the Nobel Prize winner, Renato Dulbecco. This programme enables the best young researchers to set up their own independent research groups in Italy. Read more about the careers programme.
Trials for new therapies
Developing therapies is an extremely time-consuming and complex process, involving many players, requiring considerable economic and other resources (time, expertise, people). Only after it has successfully gone through a number of vitally important stages of development will the therapy truly become a therapy. By completing these stages, we can demonstrate that the therapy is safe and effective. The therapy must have a sound scientific rationale, or, in other words, it must be based on robust, published, replicable laboratory data that have been shared with the rest of the scientific community. The delicate stage of the passage from the laboratory to clinical trials is closely monitored by the regulatory authorities (in Italy these are the Italian Medicines Agency (AIFA), the National Institute of Health (ISS) and the ethics committee of the hospital hosting the trial). These regulatory bodies must define the shared set of rules and ensure full compliance with these, while also safeguarding the health of patients at all times. The clinical trial protocol must be drawn up and include full details of the procedure, including how many and which patients will be involved, which parameters will be used, firstly to assess the safety of the treatment and secondly its efficiency, how long it will last, how much it will cost. Only then can we establish, as objectively as possible, whether a given treatment is of therapeutic value and worthy of being developed and placed on the market for all patients requiring it. Telethon’s view is that any breach of such rules will be harmful first and foremost to the patient. This includes using the term ‘therapy’ to refer to treatments that have been developed in a manner not conforming to the rules shared by the scientific community, and administered in the absence of adequate assessments as described above. We wish to stress that the ‘compassionate’ use of therapies for which no clinical trials have been conducted is also governed by law. Indeed, a treatment that has not been fully tested, or one that is generally administered for other indications, may only be administered to patients suffering from a serious disease for which no therapeutic alternatives are available (as is frequently the case for rare genetic diseases), if the risk-benefit balance is considered to be favourable, and in any case only with the approval of the competent authorities.
Vaccination
Prevention of infectious diseases is one of the key public health objectives. Vaccines have been a tremendous breakthrough in the history of medical practice. Vaccines have all but defeated diseases like smallpox, tetanus, polio and diphtheria. Vaccines have also greatly curbed the incidence of hepatitis B, measles, rubella, parotitis and meningitis. It is paradoxical that vaccines should become the ‘victim of their own success’. Since these diseases have been defeated, or significantly reduced, they are no longer considered to be of great importance. In the meantime, the headlines have been full of alarming stories about the use of vaccines. While scientifically unfounded, these stories have convinced many parents not to vaccinate their children. As a Foundation whose aim is to foster biomedical research into treatments for muscular dystrophy and other rare genetic diseases, we strongly distance ourselves from anyone who uses information that is not based on scientific evidence to persuade people to refuse vaccines. As with all other drugs, vaccines can have adverse side effects. However, current scientific findings indicate that the risks associated with vaccination are significantly lower than the benefits. In any case, the risks are constantly monitored at international level in order to ensure higher and higher levels of safety. It is especially important for patients suffering from rare genetic diseases – the patients we originally set out to assist, and for whom we work every day – to be protected against infections, which could even be life-threatening for people whose health is already fragile. It is also important to note that, by ensuring adequate vaccine cover in the general population, we are also protecting those among us who suffer from diseases that have weakened their immune system to such an extent that vaccination must be ruled out. For further information, please visit the VaccinarSì site, managed by the Italian Society of Hygiene (SITI), the National Institute of Health (ISS), and the Ministry of Health.
Research integrity policy
Fondazione Telethon drew up a Research Integrity Policy for Telethon-funded scientists working in Institutions all over Italy. Read more
