The 21st century has ushered in the era of genomics, where geneticists can now decipher the entire genetic code, a book of 6 billion letters, in just a matter of hours and deliver diagnoses within 24 hours. Despite these remarkable advancements, the diagnosis and treatment of genetic conditions continue to pose a significant burden on humanity. The treatment aspect is further complicated by the rarity of these conditions, as researchers, funding institutions, and the pharmaceutical industry do not allocate significant attention or resources to them. At Acıbadem University, we've taken a bold step to address this issue through the Rare Diseases and Orphan Drugs Application and Research Center (ACURARE). Our mission at ACURARE is to provide comprehensive support to individuals with rare or undiagnosed conditions, encompassing diagnosis, research, and education. To fulfill this objective, we have established the İSTisNA – Istanbul Solution Platform for Undiagnosed and Rare Diseases, a collaborative project involving researchers across Istanbul, Turkey.
İSTisNA refers to “exceptional” in Turkish. Within the framework of İSTisNA, we undertake educational initiatives, disseminate knowledge, conduct biobanking activities, and engage in projects focused on translational research. Among our key endeavors is the Undiagnosed Disease Program. Our primary task is to conduct a meticulous reanalysis of the whole exome sequencing/whole genome sequencing data of undiagnosed cases. The team employs a specialized tool developed at ACURARE and convenes weekly meetings to deliberate on the findings. These efforts have yielded positive outcomes, supporting the treatment and management of some patients while enabling genetic counselors to provide guidance to families considering future pregnancies.
Another facet of ACURARE's work involves pioneering treatment approaches using cutting-edge techniques such as lentiviral-based gene therapy. Promising results have emerged from our lentiviral gene therapy research against X-linked Agammaglobulinemia (XLA), wherein patient-derived stem cells transduced with lentiviral vectors were transplanted into NSG mice, resulting in the detection of B-cells (XLA patients are lack of B-cells) in various tissues. We are excited to see promising results which may be find a chance for clinical application.
Furthermore, ACURARE's scope extends beyond single-gene rare disorders to encompass rare cancers. One of our ongoing studies focuses on the predisposition to leukemias and lymphomas, aiming to elucidate genetic changes in children with a positive family history and a diagnosis of leukemia or lymphoma. This research seeks to identify genetic variations contributing to a predisposition to leukemia/lymphoma development, ultimately providing valuable insights for treatment, management, and genetic counseling.
Rare and undiagnosed diseases represent a field with much work to be done, and we welcome students eager to embark on this challenging yet gratifying journey with us. Join us in exploring the uncharted territories of medical genetics and making a meaningful impact on the lives of those affected by these conditions.
