What is a genetic disease?

A “genetic” disease is a disease arising out of an error in the genetic makeup of an individual (i.e. in that individual’s DNA). Genetic diseases can originate in a defect of a single gene (or a specific tract of the 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 the “dose” of genes, as a result of an error in the number of chromosomes. This we see in the Down syndrome, where we find an extra chromosome 21, and in the Turner’s syndrome, where one of the sexual chromosomes is missing. More generally speaking, furthermore, even diseases considered “multi-factor” (e.g. diabetes, Alzheimer’s and certain tumours) may include among their contributory factors defects in specific genes that may 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 competition announcements.

What is a rare disease?

Rare diseases is an epidemiological term. It indicates the spread of a given disease within a given population. According to the current definition, rare diseases in Europe are those contracted by less than one person among 2,000 inhabitants. 80% of rare diseases are genetic in origin. In other words, they are caused by alterations in the DNA. Rare forms of cancer or autoimmune conditions (i.e. diseases caused by aberrant reactions on the part of the immune system leading to attacks on the organism itself) 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 genetic in origin. Europe-wide, it has been estimated that 27-36 million people suffer from rare diseases. The figure comes to 20 million in the United States and 1-2 million in Italy (Sources: Orphanet, Eurordis, Istituto Superiore di Sanità).

Why are rare genetic diseases referred to as “orphans”?

Since they are rare within the population, large public and private financial interests are generally reluctant to invest in these diseases. These interests generally focus on the more widespread diseases. Hence, the term “orphans”. Indeed, attention is drawn to such diseases frequently by the patients themselves.

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 currently we have minimal scientific knowledge of some 1,000 rare diseases. This translates into considerable delays and mistaken diagnoses. Indeed, according to a survey by Eurordis of 6,000 patients, for a quarter of the cases, diagnosis took between 5 and 30 years to arrive.

How far has research come for the disease I suffer from?

Scientific research into genetic diseases is evolving constantly. In order to provide support for all people with genetic diseases, we’ve set up a service called “Filo diretto con i pazienti” (patients’ hotline). You can contact the service via this link to receive information in full anonymity concerning the state of research into a given genetic disease, as well as the institutes that handle that disease in Italy and structures specialised in providing assistance. “Filo diretto con i pazienti” avails itself of the services of physicians with genetics expertise as consultants.

Why isn’t the disease I suffer from in the list of diseases studied by Telethon?

To ensure levels of true excellence in research, we have adopted a system for selecting projects that rewards only merit. By means of this system, we reward and fund the best research projects, without providing any indications as to our preferences in regard to the specific disease studied, conditional upon the disease in question being in any case of proven genetic origin. Hence, the researchers themselves indicate which diseases they intend to study, while the “Commissione medico scientifica” (scientific and medical committee) selects what it believes are the most valid and promising among these projects. If your disease has not been included in any Telethon research project, this doesn’t mean it won’t become the subject of a research project in the future.

For the list of projects funded by Telethon, click here!

What are genetic tests?

Thanks to basic research, enabling in-depth study of the molecular mechanisms of diseases, we now have genetic tests for more than 2,000 genetic diseases (source: Orphanet). In cases of the suspected presence of such conditions, or of familial conditions, early diagnosis of genetic diseases can be obtained for the purpose of adopting an optimal strategy for patient care provision. This entails providing therapeutic intervention or treatment, if available, at the very earliest opportunity, thereby contributing the patient’s wellbeing. Furthermore, in certain cases, the onset of irreversible harm can be prevented. For example, in the case of cystic fibrosis – one of the more widespread genetic diseases – by screening newborns we can test for the presence of this defect at the time of birth to immediately provide care to positive infants. Although there is no final treatment, early diagnosis can significantly contribute to the quality of living conditions of such patients. In the case of the Omenn syndrome (a serious hereditary immunodeficiency condition), foetal diagnosis enables intra-uterine medulla ossium transplant, as a result of which the child will be perfectly healthy at birth.

What kinds of research does Telethon finance?

We provide funding for 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 implemented by internationally renowned experts. The scientific results achieved thanks to these investments have met with approbation on an international level and reflect the validity of the selection systems adopted. To find out more about the system for selecting Telethon research projects, click here!

Does Telethon receive any subsidies from the State?

We don’t receive subsidies from the State. Since 1998, for the purposes of the research work carried out, our institutes receive considerable funds also from Italian and international bodies that are institutionally dedicated to funding activities within the non-profit public benefit purpose sector. These institutions include the “Ministero dell’Università e Ricerca” (ministry of the university and research), a number of bank foundations, the European Commission and the National Institutes of Health. For more information on Telethon institutes, click here!

Where does the donors’ money go?

Since 1990, Telethon has assigned more than 450 million euros as funding for more than 2,500 scientific research projects. Thanks to Telethon’s unflagging efforts in this field, more than 470 genetic diseases have been studied and more than 10,000 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 development of therapies for a number of rare diseases that had previously been considered incurable, such as ADA-SCID, metachromatic leukodystrophy and the Wiskott-Aldrich syndrome. The quality of this research has also contributed to the quality of living conditions of patients with neuromuscular diseases and has, thanks to the discovery of the gene responsible, shed light on the conditions of patients presenting disorders to which no name had yet been assigned. Year after year, the results of basic and preclinical studies have led to overall progress in the field of Telethon research into the application of new therapies. Telethon’s activities, made possible by the funds raised, are described in full detail in the yearly balance report. To read the report, click here!

For information on our major successes, click here!
For information on all Telethon-funded projects, click here!

How does Telethon tackle the brain-drain problem?

Work abroad is highly beneficial and can even be considered a point in favour of researchers, since it broadens their horizons as a part of their full 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. The negative consequences are felt not just on an individual level (when one is forced to leave ones own country, and not voluntarily, after having weighed up all the alternatives); we must also consider the systemic effects on the country (inevitable loss of human and other resources). It is worth noting that the loss regards people who have benefitted from public education, who represented an investment made by all taxpayers. Within our own ambit, we tackle the problem by means of our careers programme, which bears the name of the Nobel laureate, Renato Dulbecco. This programme enables brilliant young researchers to start up their own independent research groups in Italy. Since its inception in 1999, the programme has led to the formation of 38 laboratories located throughout Italy, deploying more than 400 researchers. For more information on the careers programme, click here!

What is Telethon’s position in regard to scientific research?

We consider scientific research to be the key instrument by means of which we can act on the assignment received from patients, i.e. finding treatments for genetic diseases. This is why, since 1990, we have dedicated our efforts to raising the largest sums possible, to be directed toward this major objective. The funds which we have collected exceed 480 million euros. This is a large sum of money, especially in view of the rarity of these diseases. Finding adequate funds for researchers is certainly a key to success, but other aspects must also be considered. As important as the funds themselves are, we must assign them according to criteria such as will enhance merit. Our aim is to avoid the kind of waste that comes from compensation funding (an ‘a-little-bit-for-everyone’ kind of approach). This would not foster growth of research centres with an adequate critical mass and degree of competiveness to make their mark internationally. A further key aspect regards continuity of funding, assured thanks to our regular competition announcements, providing researchers with opportunities to receive funds uninterruptedly when pauses may be detrimental to performance.

For more information on our mission, click here!
For more information on how we fund our research, click here!
For more information on our balance reports, click here!

What is Telethon’s official position on animal trials?

We state that, at present, the use of animals for scientific purposes is still absolutely necessary for developing efficacious treatments. However, we encourage researchers to use animals sparingly, and to use them only when strictly necessary, to keep numbers as low as possible and to avoid causing suffering to them. Like all other funding bodies, we comply with the current laws of the country we operate in also in regard to the use of animals in research. In Italy, the use of animals for biomedical research is governed by Decreto legislativo, legislative decree, no. 26 of 4 March 2014, implementing the new European Directive, 2010/63/EU. When assessing projects to be funded that entail animal trials, the “Commissione medico scientifica” (scientific and medical committee) carefully considers how necessary and appropriate such trials may be. The main results of researchers who have received funds, such as gene therapy treatment of a serious hereditary immunodeficiency condition, would not have been possible had animal trials not been conducted. These trials provided the researchers with confirmation that the therapy was efficacious before direct trials were carried out on children. For further information on this question, please consider the main theses of animal rights activists and the counter-arguments of scientists, and visit the Research4Life site, which provides a venue for citizens, institutions, media and scientists to constructively debate various issues arising in the field of biomedical research, including animal trials.

What is Telethon’s official position on trials for new therapies?

Developing therapies is an extremely time-consuming, delicate process, involving many players, requiring considerable economic and other resources (time, expertise, personal). Only after it has successfully gone through a number of vitally important stages of development will the therapy truly become a therapy. Thanks to these stages, or hurdles, we can demonstrate that the therapy is safe and efficacious for the patient. The therapy must be based on a decidedly scientific rationale, or, in other words, based on robust, published, replicable laboratory data that has been shared with the rest of the scientific community. The delicate stage of the passage from the laboratory to clinical trials is strictly supervised by the regulatory authorities (in Italy, the “Agenzia italiana del farmaco”, the national medicines agency, the “Istituto superiore di sanità”, national institute of health, and the ethics committee of the hospital hosting the trial). These regulatory bodies must draw up shared rules and must exert vigilance to ensure compliance with these rules without exception, while also safeguarding the health of patients at all times. The clinical trial protocol is drawn up with attention paid to all details of the procedure (how many patients involved? which patients involved? which parameters are to be measured to assess firstly the safety of the treatment and secondly its efficacy? duration? cost?). Only then can we, as objectively as possible, assess whether a given treatment is of therapeutic value and worthy of development and marketing to 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 all definitions of treatments as ‘therapies’ when these treatments have been developed in a manner not conforming to the rules shared by the scientific community, administered furthermore in the absence of adequate assessments as described. We wish to stress that the practice of the ‘merciful’ use of therapies for which no clinical trials have been conducted is also governed by law. Indeed, it is foreseen that, in cases of a serious disease for which no therapeutic alternatives are available (as is frequently the case for rare genetic diseases), a treatment that has not been fully tested, or one that is generally administered for other indications, can be implemented only if the balance between risks and benefits is favourable, and in any case only following approval by the competent authorities.

What is Telethon’s official position on vaccination?

Prevention of infectious diseases is one of the key objectives of public health bodies. In this field, vaccines are a momentous development in the history of medical practice. Vaccines have all but defeated such diseases as smallpox, tetanus, polio and diphtheria. Vaccines have also greatly curbed the incidence of hepatitis B, measles, rubella, parotitis and meningitis. It is paradoxical that vaccination should become the ‘victim of its own success’. Since these diseases have been defeated, or significantly curbed, they are no longer considered great threats. In the meantime, there has been a proliferation of alarming stories concerning vaccine use. 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 firmly oppose those who use unfounded information to persuade people to refuse vaccine cover. As with all other pharmaceutical preparations, vaccines may have adverse side effects. However, current scientific findings indicate that the risks surrounding vaccination are significantly lower than the benefits. The risks in any case are constantly monitored internationally in order to ensure higher and higher levels of safety. For patients suffering from rare genetic diseases – the patients we originally set out to assist, and for whom we work to this day – it is vital that they be protected from infection, which may represent a mortal danger to already weakened organisms. We also note that, by providing satisfactory vaccine cover for the population in general, we shall protect 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 “Società Italiana di Igiene”, Italian society of hygiene, the “Istituto Superiore di Sanità”, national institute of health, and the Ministry of Health.

Where will I find all the projects funded by Telethon?

We have published online all the projects funded from 1990 to the present day. For each project, readers will find the name of the researcher who received the funds, a summary account of the work carried out with the total sum provided, the diseases studied and ensuing scientific publications. Over and above this database, we also provide full information on our research successes, diseases studied, researchers funded and the community of patients suffering from genetic diseases. Our online information also includes a news section that fully updates readers with information on research, on our researchers and on the diseases for which our projects look most promising. In the “Bilancio di Missione” (mission report), we provide indications as to the latest projects, funded as on 30 June (the last day of Fondazione Telethon’s financial year).

How does Telethon publicise and make known the results of its research?

We were the first Italian organisation to join the European initiative launched by eight British non-profit bodies engaged in research funding (including the Wellcome Trust). This meant inserting the publications of the researchers whom we funded into a digital archive that can be freely accessed by all, online. Founded in 2001, Europe Pubmed Central is based on the concept that scientific progress depends on freely shared results. It uses the Internet as a means of breaking down all barriers to the spread of knowledge. We willingly share our scientific content (produced by the donations of millions) with all, and not just with people who can afford journal subscription rates. Researchers all base their work on data produced by colleagues working worldwide. They, in turn, provide results that contribute to the general progress of knowledge. By providing all scientists with an opportunity to access the full versions of scientific articles as soon as these are published we accelerate this process. Open access publication, and its sustainability, has costs, which we negotiate with publishing houses and which we shoulder when inserting the articles produced by our funded researchers into the open access archive. For more information on open access, click here!

How does Telethon turn research results into therapies for all?

In order to fully conform to its mission − i.e. make the therapies available that have been developed as a result of the research (financed with the funds raised) − Telethon needs industrial partners who can develop and commercially launch therapeutic strategies that were shown to be efficacious in the laboratory. If companies won’t produce and market the results of Telethon’s research, our ‘seeds’ will, so to speak, fall on stony ground. While Telethon is capable of selecting the best and most promising basic and preclinical research projects, only pharmaceutical industry players have the skills base and production capacities to concretely deliver our results to patients, in the form of therapies. A non-profit organisation has neither the skills nor the structures to develop and produce medicinal products, or to monitor the product’s effects on the population (pharmacovigilance) and negotiate the terms of commercial distribution with the regulatory authorities. For more information, click here!

Who and what are provincial coordinators?

Our coordinators are people who have been particularly active on a local level. They encourage support from the public at large throughout the year. They must provide information on the progress of research funded by Telethon and must organise fund raising actions. We recruit coordinators at all times. If you want to join us, write to [email protected] Click here to meet our provincial coordinators!

How does Telethon select companies for partnership activities?

Every year, many companies decide they wish to support our research. There are many approaches. Joining the list of donors will only publicise the donation and ambit of the same, while informing readers of the company’s commitment toward Fondazione 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 options that regard and involve our organisation and our mission.

When does Telethon grant its patronage?

By granting patronage and permitting use of its logo, Telethon displays its close ties and affinities with certain bodies or initiatives. The following is a list of simple indications in this regard. Fondazione Telethon may decide to grant patronage to a scientific or cultural initiative whose intentions it shares (e.g. scientific conventions, meetings organised by patients’ associations, awareness raising initiatives regarding rare genetic diseases). Patronage consists in a symbolic acknowledgement. It entails no economic support of any kind. The foundation reserves the right, at its own discretion, following a careful in-house assessment, to grant or deny patronage to any initiative.

If I receive patronage, can I then use your logo?

Not necessarily. If Telethon permits use of its logo, such use must not entail modifications of the logo (colour, shape, size specification etc.) and must conform with the indications provided by us. If our logo is not used correctly, we reserve the right to demand remedial action.

How can I apply for Telethon patronage or for permission to use the logo?

Fondazione Telethon will consider all requests for patronage or for use of its logo. Please send your request to [email protected].

What do we mean when we say “disease with no diagnosis”?

It’s an unknown genetic disease. It has no name. There is no known biological cause. No one has studied it. So, we don’t know how it will progress or if there’s a cure. No genetic tests are available and we can’t say if other cases will emerge within the family in which it appeared.

Why is it important to have a clinical diagnosis?

Diagnosis is the starting point for all sufferers from genetic diseases. Diagnosis means the disease acquires a name, which means we can find other similar cases worldwide. We may therefore deduce how the disease will progress. It also means more information on how to deal with the condition both on a day-to-day basis and when emergencies arise, while enabling us to adequately plan medical examinations.

Why is knowing about the mutation in a gene a game changer?

If we can name a gene, many more openings become available to us. We’ll find a genetic test for the family. We can study that gene, see how it works, and find a model for experimental use. Finally yet importantly, genetic diagnosis is a psychological anchor for patients and their families. No longer are they so totally alone. No longer do they have to bear the burden of being ‘the rarest among the rare’.

Who benefits from the Telethon pilot programme?

The programme is for children and youngsters (less than 18 years old) presenting serious unknown genetic diseases, including multiple malformations of various organs and apparata, suspected congenital defects of the metabolism, neurological or neuromuscular diseases, syndromic intellectual disability, and syndromic sight or hearing defects unaccompanied by other conditions.

Who does this programme not target?

The programme does not target people with no genetic disease, people with widespread diseases which are in part genetic (e.g. schizophrenia, autism, growth retardation, multiple sclerosis, neoplastic diseases, diabetes, epilepsy etc.), patients with chromosomal abnormalities, patients with diseases associated with old age or who present only intellectual disability, and patients with a well-known genetic disease but who have not completed lab diagnosis.

How do patients join the study?

A paediatrician, geneticist or specialist treating the patient can contact Telethon with the request that the disease be studied. When the request has been made, the physician shall log into the project site and fill in a brief online form. Within 60 days, patients receive a reply from the specialists at the three centres (the Ospedale Pediatrico Bambino Gesù in Rome, the Ospedale San Gerardo in Monza and Azienda Ospedaliera Universitaria “Federico II” in Naples).

Which answers are provided?

If the disease can’t be studied as part of the programme, another medical centre may be indicated as appropriate. If the answers provided in the form point to the suspected presence of an unknown genetic disease, the physician shall be asked to provide further information, or it will be decided that the patient should be called in for a medical examination at one of the three centres involved in the programme.

How likely is it that I’ll join the programme?

For the purposes of this initial pilot programme we reckon we’ll analyse the exome in some 1500 individuals, representing 350-400 families. Given our current knowledge base, we expect to identify the causal genes in at least 25-35% of the isolated cases (for whom there are no other similar cases in the family history) and in at least 40% of family cases, for an expected total of 100-120 cases resolved. However, the success rate may well rise over the years, through knowledge gained regarding new disease genes. Furthermore, the information obtained shall be stored on the project database. If answers emerge at a later date, after collating data internationally with those on other databases, we can then retrace our steps.

How will my data and samples handled?

Access to the programme will always require informed consent. The results of analysis shall be submitted in person to the family and the family’s physician during a meeting. The samples shall be stored for, in the event, re-analysis at a later date (again, of course, if the family agrees to this).