Rare Diseases covered in all aspects

"Rare Diseases Symposium" was held by Üsküdar University Scientific Research Society (ÜSKÜBAT). Experts in their fields attended the symposium. At the symposium, it was mentioned that rare diseases are one of the most important issues brought by the human genome project. At the same time, it was pointed out that SMA disease can now be screened from premarital screening to prenatal screening. In the symposium, which received great attention, rare diseases were discussed in all aspects.

The event held at Üsküdar University NP Health Campus İbni Sina auditorium was attended by Üsküdar University Faculty of Medicine Dean Prof. Haydar Sur, Prof. Korkut Ulucan from the Department of Molecular Biology and Genetics, Asst. Prof. Cihan Taştan, Assoc. Prof. Tolga Dündar, Istanbul University Faculty of Medicine, Department of Internal Medical Sciences, Prof. Ali Yağız Üresin, Alim Yılmaz and Şule Arapoğlu Yılmaz.

Prof. Haydar Sur: "Somehow, the event comes to epigenetics"

Dean of the Faculty of Medicine Prof. Haydar Sur gave information about rare diseases and made the following remarks: "If you do not take measures to rehabilitate the entire forest, the improvement of a few trees in the forest will affect the health of the forest. If you lose sight of the health of the general population, it is not a very fortunate thing. Diseases that appear in a maximum of 5 people out of every 10 thousand people in the society or in fewer people, the consequences of which affect our lives and cause disability, are called rare diseases. It appears in society less than 5 in 10 thousand. Usually, the clinical course of these diseases is severe. It is chronic. It is a dream to heal with a one-time treatment. It often leads to permanent loss of health in the patient. About 8 thousand rare diseases have been identified. It is said that more than 300 million people in the world have one of these diseases. It has been determined that 72 percent of these 8 thousand diseases are directly related 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 it comes down to epigenetics. February 29 is a rare day, and it comes every 4 years. That is why the World Health Organization has declared February 29 as 'World Rare Disease Day'."

Prof. Korkut Ulucan: "The human genome project gave very important information"

Underlining that rare diseases are one of the most important issues brought by the human genome project, Prof. Korkut Ulucan said that "Certain areas related to rare diseases are very lacking. The human genome project has given us very important information; however, perhaps the region where it has touched our lives the most has led to the emergence of new technologies. The number of genes was estimated to be much higher in the first place. As the process was done, it was seen that the number of genes is not that high, but the genes are not that uniform either. When the first human genome project began, it was estimated that there were over a million genes. Rare diseases are one of the most important issues that the human genome project has brought us. In fact, we can interpret the visible part. We can control many events, but there are some that we cannot. We have some features that we cannot intervene too much. Even if we find the cause of the disease, we try to eliminate the symptoms in treatment and practice. Considering the structure of today's epigenetic system, our job is a little more complicated. The new human genome project has given us very important information. It enabled the gene to create methods of analysis."

Asst. Prof. Cihan Taştan: "SMA gene therapy has been prioritized for 2 years"

Mentioning that SMA disease can now be screened from premarital screening to prenatal screening, Department of Molecular Biology and Genetics Asst. Prof. Cihan Taştan stated that "There are thousands of different genetic diseases that occur as a result of disorders on the genome. These thousands of genetic diseases do not always occur with the same genetic modifications. As you know, there are close to three billion letters in the human genome, and there are 25 thousand different genetic elements. These genes can undergo different mutations. Current studies so far show us that 75,000 mutations cause more than 7,000 rare diseases. If there are 10 thousand of such mutations, you need to do personalized genetic screenings and determine the mutations, disease and associated mutations in the person and then take action. SMA disease occurs especially 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 screening to prenatal screening. There are also SMA type 0 patients, but it is impossible to see them in the community. Because they are born in the form of stillbirth. Any mutation in the SMN 1 gene causes that person to die before they are born. If you are going to study a drug, if you are going to study a gene therapy, or if you are going to study the underlying molecular causes of any disease, you need to get these rare disease cells in the laboratory."

Assoc. Prof. Tolga Turan Dündar: "80 percent of rare diseases are of genetic origin"

Mentioning that some of the rare diseases can be fatal and chronic, Assoc. Prof. Tolga Turan Dündar informed on the subject and stated that "About 80 percent of rare diseases are of genetic origin. The gene consisting of phosphorus and sugars forms the nucleotide."

Prof. Ali Yağız Üresin: "We can call drugs that cost a lot of money orphan drugs, and drugs that do not cost a lot of money as orphan drugs"

Mentioning that vaccines are also a kind of orphan drug, Istanbul University Faculty of Medicine, Department of Internal Medical Sciences faculty member Prof. Ali Yağız Üresin underlined that it is an area open to innovation for those who deal with the ethics of business. Üresin stated that "We can call drugs that cost a lot of money orphan drugs, and drugs that do not cost a lot of money are orphan drugs. 300 million people have rare diseases. Half of those affected are children. 80 percent of them are of genetic origin. There is an approved treatment for 5 percent. From my point of view, vaccines are also a kind of orphan drug. It is also an area open to innovation for those who deal with business ethics. The drug development process is a very long process. It takes 15 years. In rare diseases, it is not possible to work with that many patients because there are not that many patients.”

Alim Yılmaz: "The most prominent features in albinism are the eyes"

Talking about the difficulties of living with an albino, Alim Yılmaz said that "Albinism is a genetically inherited disease. It is rare. There is no single type of albinism. There are 21 different types. It is named according to the places where the genes are located. Basically, our known color is that we are light and white. The most prominent features in albinism are the eyes. If the person is blonde and has no problems with their eyes, they are fine. The eyes of people with albinism have little vision and cannot perceive details. We experience extreme sensitivity and depth perception in the eyes."

Şule Arapoğlu Yılmaz: "Our biggest problem comes from congenital vision loss"

Şule Arapoğlu Yılmaz mentioned that the sun affects albinism very much and stated that "Albinism comes from a congenital loss of vision, and the sun affects albinism a lot. When we stand in front of any light, we cannot see the light there. Eye problems also occur. Our biggest problem comes from congenital vision loss and there is no cure for it."

 

Üsküdar News Agency (ÜNA)