Türkiye is one of the countries with the highest incidence of rare diseases!

It is being established to improve the quality of life of individuals with rare diseases related to the TBL1XR1 gene and their families, to promote scientific research and to raise social awareness. The association, of which Dr. Ayşegül Altınbaş from Altınbaş University is a founding member, aims to strengthen solidarity among patients and their families, raise awareness of rare genetic diseases in society, provide access to up-to-date scientific information for healthcare professionals and educators, and play an active role in legal regulations.

Prof. Dr. Ayşegül Altınbaş from Altınbaş University drew attention to a major deficiency in rare diseases in Türkiye and announced that the first association working on TBL1XR1 gene mutation will be established on February 28, Rare Disease Day. Founding members of the association include Nusret Altınbaş, Dr. Ayşegül Altınbaş, Dr. Ayşegül Altınbaş, Berrin Zorlu, Dr. Tomru Dereköylü, Altınbaş University Faculty of Medicine Dean Prof. Dr. Tunç Fışgın, Altınbaş University Faculty of Law Faculty Member Prof. Dr. Sevtap Yokuş, Banu Eraslan, Eda Güney and Sevgi Akdemir.

Prof. Dr. Ayşegül Altınbaş stated that more than 350 million people worldwide struggle with rare diseases and that this number is between 5 and 7 million in Türkiye. Stating that diseases with an incidence of 1 in every 2000 people in Europe are considered “rare”, Dr. Ayşegül Altınbaş said, “However, most of these diseases are not even diagnosed and patients and their families remain in uncertainty for years. In Türkiye, it takes an average of 7 years for an individual to be diagnosed with a rare disease. In this process, families struggle with unanswered questions and helplessness by traveling from doctor to doctor.”

What is a rare disease related to the TBL1XR1 gene?

Giving information about rare diseases related to TBL1XR1 gene, Prof. Dr. Ayşegül Altınbaş said, “TBL1XR1 gene is a gene that plays an important role in the development of the brain and the regulation of various body functions. Mutations in this gene can lead to symptoms such as developmental delay, learning disabilities, retardation in speech and motor skills, autism spectrum disorder-like symptoms, muscle weakness and various neurological problems. The recognition and management of this rare genetic condition requires a multidisciplinary approach.”

Not 'rare', but a growing public health reality

Emphasizing that more than 250 new rare diseases are identified every year, Prof. Dr. Ayşegül Altınbaş said, “Rare diseases are no longer just ‘rare’, but a growing public health reality. There is no organization working on TBL1XR1 gene mutation in Türkiye. This mutation can lead to serious health problems such as mental and developmental retardation, autism spectrum disorder, epilepsy, brain, heart and kidney anomalies. However, we do not know how many people struggle with this disease.”

Dr. Altınbaş announced the establishment of Herdem Çare, the first association in Türkiye to support scientific studies to find solutions to this problem.

Stating that rare diseases are not only a genetic inheritance, Dr. Altınbaş mentioned that environmental factors are effective. Noting that this disease is increasing rapidly with the changes brought by modern life and unknown triggers, he said, “A disease that we do not recognize today can change our lives or the lives of our loved ones tomorrow.”

“Without supporting science and solidarity with families, we cannot effectively fight against rare diseases!”

Stating that research on rare diseases is insufficient, Prof. Dr. Ayşegül Altınbaş said, “Harvard University and other leading research centers are working to understand the mechanism of TBL1XR1 and develop treatments. However, patient data, clinical trials and patient support organizations are required for these studies to progress. There is no data on this subject in Türkiye. Therefore, as Herdem Çare, we set out to identify and support patients and contribute to scientific research.”

Prof. Dr. Altınbaş stated that a research and support network was established for the first time on TBL1XR1 and listed the following goals

- Identifying individuals with TBL1XR1 mutation and accelerating the diagnosis process,

- Creating a support and solidarity network for patients and families,

- Collaboration with the international scientific community to support genetic research.

“There is no recorded data on TBL1XR1 in Türkiye! Without data, science cannot progress. If science does not advance, treatments are delayed. The support we give today can shape the treatment of tomorrow!” said Ayşegül Altınbaş and emphasized that everyone should support this scientific struggle.

Scientific cooperation with universities

Emphasizing that the association will cooperate with research centers and healthcare institutions, especially Altınbaş University, in order to support academic and scientific studies, Ayşegül Altınbaş announced that they will support scientific research on TBL1XR1 and similar rare diseases. She stated that they will organize scientific seminars, conferences and training programs by developing joint projects and encourage data sharing by establishing collaborations with laboratories and healthcare institutions.

Making a statement on behalf of Herdem Çare - TBL1XR1 Research and Support Association, Ayşegül Altınbaş said, “We aim to support and develop scientific studies in the field of rare diseases by establishing a strong communication network with scientists and healthcare professionals. Thanks to the collaborations we have established with universities and research centers, we aim to ensure that our patients have access to better healthcare and up-to-date treatment methods.”

“We are reborn every rebirth!”

Finally, Ayşegül Altınbaş said, “Every day is a new disease, every day is a new struggle. However, science does not stop, research is progressing and every day a new treatment is opened. As Yunus Emre said: 'We are reborn every day, who would tire of us...' Herdem Çare is a movement that aims to be reborn with science, to be strengthened with solidarity and to produce solutions together for individuals living with rare diseases.”