Rare Diseases is a definition used in Europe for diseases that occur 1 in 2000 and less frequently. However, 8000 different rare diseases are known to affect the lives of approximately 350 million people all over the world and 5 million people in Turkey – and half of the affected people are still in their childhood.¹ One of the most important steps for the diagnosis of diseases is undoubtedly awareness.
Sanofi Genzyme, Sanofi’s global business unit focusing on special treatment areas such as Rare Diseases, Neurology, Rare Blood Diseases, Immunology and Oncology, drew attention to the World Rare Diseases Day, February 29, with a joint statement made with the Pediatric Metabolism Association.
Rare Diseases, with the definition used in Europe and other developed countries, are defined as diseases that occur with a frequency of 1 in 2,000 or less, most of which are progressive, chronic and some of them can be fatal.² In addition, different subtypes of some common diseases²; rare infectious diseases, autoimmune diseases and rare cancers can also be considered as Rare Diseases.³
80% of Rare Diseases are due to genetic causes. Although almost all genetic (inherited) diseases are rare diseases, not all rare diseases are inherited.³ Since most of them are inherited diseases, some rare diseases may be more common in certain regions.²
It can take 7 years for patients to reach the correct diagnosis ⁴
Although the age groups diagnosed with a rare disease are highly variable, 50 of the patients are in their childhood. Unfortunately, three out of every 10 children affected by these diseases die before reaching their fifth birthday.
Emphasizing the importance of raising social awareness in the joint statement made on the occasion of the World Rare Diseases Day, President of the Pediatric Metabolism Association Prof. Dr. Turgay Coşkun said; “Each Rare Disease may seem to affect a relatively small group, but in total, it affects a significant portion of the population. Although these diseases are rare, the results can be very serious for the individual who is sick, his family and society. Special care and treatment methods, drugs, consumables, special foods, medical devices and improving the quality of life are needed in these diseases, for which there is no experience in their treatment and follow-up before.
The trend of increasing the type and number of identified diseases attracted the attention of technology and pharmaceutical companies. Thus, diseases that were fatal and ended in serious disability can be treated with early diagnosis. Regarding rare diseases that have become a public health problem, it is of great importance that patients and their families can express the problems they experience during the diagnosis and treatment process, and raise social awareness and awareness. In this respect, I find World Rare Diseases Day very valuable.”
Pelin Yunusoğlu, General Manager of Sanofi Genzyme Turkey, Levant and Iran, stated that Rare Diseases has been a subject that Sanofi Genzyme has focused on for a long time and shared the following information; “Developing pioneering treatments in Rare Diseases for nearly 40 years, Sanofi has enriched its portfolio with studies in Rare Blood Diseases, Neurology, Oncology and Immunology while continuing to focus on these diseases. As Sanofi Genzyme, we are making a great effort to develop innovative treatment solutions in the field of Rare Diseases. We allocate a large 17% of the revenue each year to research and development activities around the world. The share of our country in clinical studies, which is an important part of these research activities, is also important. In 2019, the investment amount of our clinical studies in these areas in our country is approximately 90 million TL.
We are proud to be able to offer a total of 25 different treatment solutions to the use of patients in the world, with the fields of Hematology, Neurology, Oncology and Immunology with limited treatment opportunities or no effective treatment. The treatment options we have developed; In addition to taking existing treatments one step further, it is also extremely important for the management of many previously incurable diseases. As of the beginning of 2021, 84 different projects are being carried out at the clinical stage in the Sanofi Genzyme R&D portfolio. Information about our work in the research and development portfolio is available on Sanofi’s web pages⁵.
An information platform for awareness of Rare Diseases
Sanofi Genzyme established http://www.farkyarataneller.com, which aims to be an inclusive information and awareness platform for patients and their relatives, by determining that one of the most important needs of all stakeholders in the field of Rare Diseases is the difficulty in accessing information resources. . The platform contains useful information, including the description of diseases and patient stories.
Source: (BHA) – Beyaz News Agency
