World TBL1XR1 Awareness Day celebrated
World TBL1XR1 Awareness Day was addressed in Turkey for the first time through a national-scale program that brought public institutions, academia, civil society, and patient families under one roof. The event, organized by the TBL1XR1 Research and Support Association, was hosted by Altınbaş University.
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The program, organized to draw attention to disorders caused by the TBL1XR1 gene mutation—a rare, genetically based disease in Turkey—brought together public representatives, scientists, international academic stakeholders, and families of individuals with the TBL1XR1 gene mutation. Scientific developments, ongoing research, and family experiences were shared during the event.
DIAGNOSIS RATE IN RARE DISEASES REACHED 50 PERCENT
Speaking at the program, Prof. Dr. Yasemin Alanay, Director of the Acıbadem University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), stated that there are approximately 7 thousand rare genetic diseases in the world. Alanay noted that in the past, only 5 percent of rare genetic diseases in children could be diagnosed, whereas today this rate has risen to 50 percent.
Stating that the diagnostic process takes an average of 4–5 years, Alanay said their goal is for children to receive a diagnosis within 6 months at the latest. Emphasizing that significant progress has been made since the completion of the Human Genome Project in 2003, Alanay reported that there are currently definitive treatments for about 5 percent of rare diseases, and it is projected that treatments for 1 thousand of the 7 thousand rare diseases will be developed by 2030.
ORGANOID PROJECT WITH INTERNATIONAL COLLABORATION
Alanay stated that the Herdem Çare Association is conducting studies on a brain organoid development project in collaboration with Harvard University and Acıbadem University. It was shared that organoids are three-dimensional cell groups derived from tissue or stem cells that can function like organs.
8.5-YEAR DIAGNOSTIC PROCESS LED TO ASSOCIATION FORMATION
Association President and Altınbaş University Faculty of Law Lecturer Dr. Ayşegül Altınbaş shared that her son Erdem’s diagnosis was reached after an 8.5-year process. Stating that this process turned from an individual search into a social responsibility, Altınbaş expressed that permanent solutions are possible through the cooperation of the public, academia, and civil society.
EMPHASIS ON FAMILY EXPERIENCES AND SCIENTIFIC RESPONSIBILITY
Altınbaş Holding Vice Chairman and AYNUS Holding Chairman of the Board Nusret Altınbaş stated that their son Erdem’s health journey changed their perspective, expressing that children with the TBL1XR1 gene mutation are a shared responsibility of society.
Altınbaş University Faculty of Medicine Lecturer Prof. Dr. Tunç Fışgın stated that there are promising developments in the field of gene therapy, while expressing that science carries a responsibility to serve society. Association Vice President Berrin Zorlu emphasized that solidarity carries a holistic meaning.
Within the scope of the event, a television public service announcement prepared for TBL1XR1 was launched. Informational posts regarding the TBL1XR1 syndrome were shared by the Republic of Turkey Ministry of Health and the Health Institutes of Turkey (TÜSEB).
AWARENESS BOARD AND BALLOONS OF HOPE
In the program moderated by journalist and television presenter Defne Sarısoy, an awareness board was created with the theme "Our hands and our hearts are here for TBL1XR1." Participants shared their wishes with hand and heart prints.