The “Rare Diseases Symposium” was held by the Üsküdar University Scientific Research Community (ÜSKÜBAT). Experts in the field attended the symposium. It was stated at the symposium that rare diseases are one of the most important topics brought about by the human genome project. It was also highlighted that SMA disease can now be screened from premarital screenings to prenatal screenings. In the highly attended symposium, rare diseases were discussed in all their aspects.
Üsküdar University Faculty of Medicine Dean Prof. Dr. Haydar Sur, Prof. Dr. Korkut Ulucan from the Department of Molecular Biology and Genetics, Assist. Prof. Dr. Cihan Taştan from the Department of Molecular Biology and Genetics, Assoc. Prof. Dr. Tolga Dündar, Prof. Dr. Ali Yağız Üresin, a faculty member from Istanbul University Faculty of Medicine, Department of Internal Medical Sciences, Alim Yılmaz, and Şule Arapoğlu Yılmaz participated in the event held at the Ibn Sina auditorium of Üsküdar University NP Health Campus.
Prof. Dr. Haydar Sur: “Somehow, the matter leads to epigenetics”
Providing information about rare diseases, Dean of the Faculty of Medicine Prof. Dr. Haydar Sur said; “If you don't take measures to heal the entire forest, healing a few trees within the forest will affect the health of the forest. If you overlook the health of the general community, this is not a very beneficial thing. Diseases that appear in at most 5 out of every 10,000 people, or fewer, affecting our lives and causing disability, are called rare diseases. They appear in less than 5 in 10,000 in society. Generally, the clinical course of these diseases is severe. They are chronic. A one-time cure is a dream. They usually lead to permanent health losses in the patient. Approximately 8,000 rare diseases have been identified. It is stated that over 300 million people worldwide have one of these diseases. 72 percent of these 8,000 diseases have been directly linked to genetic structures. Others are said to have developed as a result of chronic infections and allergies, but as you know, there is such a thing as epigenetics; somehow, the matter leads to epigenetics. February 29th is a rare day; it comes once every 4 years. Therefore, the World Health Organization declared February 29th as 'World Rare Disease Day'.”
Prof. Dr. Korkut Ulucan: “The human genome project provided very important information”
Emphasizing that rare diseases are one of the most important topics brought about by the human genome project, Prof. Dr. Korkut Ulucan said; “Certain areas related to rare diseases have remained very empty. The human genome project provided us with very important information, but perhaps the area that most touched our lives enabled the birth of new technologies. Initially, the gene count was estimated to be much higher. As the work progressed, it was seen that our gene count is not that high, but the genes are not that monotonous either. When the first human genome project started, it was estimated that there were over a million genes. Rare diseases are one of the most important topics that the human genome project has brought us. Actually, we can interpret the visible part. We can control many events, but there are some that we cannot. There are some characteristics that we cannot touch much. Even if we find the cause of the disease, we try to alleviate symptoms in treatment and application. Considering the structure of today's epigenetic system, our work becomes a bit more complicated. The new human genome project provided us with very important information. It enabled the creation of gene analysis methods.”
Assist. Prof. Dr. Cihan Taştan: “SMA gene therapy has been prioritized for 2 years”
Speaking about how SMA disease can now be screened from premarital to prenatal screenings, Assist. Prof. Dr. Cihan Taştan from the Department of Molecular Biology and Genetics said; “There are thousands of different genetic diseases caused by abnormalities occurring specifically on the genome. These thousands of genetic diseases do not always occur with the same genetic modifications. As you know, the human genome has nearly three billion letters and 25,000 different genetic elements. These genes can undergo particularly different mutations. Existing studies conducted so far show us that 75,000 mutations lead to more than 7,000 rare diseases. In the presence of tens of thousands of such mutations, you need to perform personalized genetic screenings, identify mutations in the individual, and disease-related mutations, and then take action. SMA disease occurs specifically in motor neuron cells. Fortunately, the Ministry of Health has prioritized SMA gene therapy for 2 years, and we can now screen for SMA disease from premarital screenings to prenatal screenings. There are also SMA type 0 patients, but it is impossible to see them in society. Because they are born as stillbirths. Any mutation in the SMN1 gene causes that person to die before birth. If you are going to work on a drug, a gene therapy, or the molecular causes underlying any disease, you especially need to obtain these rare disease cells in a laboratory environment.”
Assoc. Prof. Dr. Tolga Turan Dündar: “80% of rare diseases are genetic in origin”
Referring to the fact that some rare diseases can be fatal and chronic, and providing information on the subject, Assoc. Prof. Dr. Tolga Turan Dündar said; “Approximately 80% of rare diseases are genetic in origin. The gene nucleotide is composed of phosphorus and sugars.”
Prof. Dr. Ali Yağız Üresin: “We can call very expensive drugs ‘orphan drugs,’ and less expensive drugs ‘neglected drugs’”
Referring to vaccines also being a type of orphan drug, Prof. Dr. Ali Yağız Üresin, a faculty member from Istanbul University Faculty of Medicine, Department of Internal Medical Sciences, highlighted that it is an open area for innovation for those involved in ethics. Üresin stated; “We can call very expensive drugs ‘orphan drugs,’ and less expensive drugs ‘neglected drugs.’ Rare diseases are found in 300 million people. Half of those affected are children. 80% are genetic in origin. Approved treatment exists for 5%. From my perspective, vaccines are also a type of orphan drug. It is also an area open to innovation for those dealing with ethics. The drug development process is a very long one. It takes 15 years. It is not possible to work with so many patients in rare diseases. Because there are not that many patients.”
Alim Yılmaz: “The most prominent features in albinism are the eyes”
Speaking about the difficulties of living with albinism, Alim Yılmaz said; “Albinism is a genetically inherited disease. It is rarely seen. There isn't just one type of albinism. There are 21 different types. They are named according to the location of the genes. Fundamentally, what is known is that our color is light, pure white. The most prominent features in albinism are the eyes. If a person is blonde and has no eye problems, they are perfectly fine. People with albinism have poor vision and cannot perceive details. We experience extreme sensitivity in the eyes and a lack of depth perception.”
Şule Arapoğlu Yılmaz: “Our biggest problem comes from congenital vision loss”
Speaking about how the sun greatly affects albinism, Şule Arapoğlu Yılmaz said; “Albinism stems from congenital vision loss, and the sun greatly affects albinism. When we stand in front of any light, we cannot see the light there. Eye problems also arise. Our biggest problem comes from congenital vision loss, and there is no cure for it.”