Medical and technological developments in the field of health services are among the top agenda topics of both Turkey and the world. Advances in biotechnology provide new possibilities in the diagnosis and treatment of diseases. One of them is the use of genetic diagnostic methods that give precise results in the diagnosis of diseases. In the medical world, diseases that occur in less than one person in 2000 are called rare diseases. There are more than 7,000 rare diseases known in the world, affecting 75% of children. About 150 of these can be treated with medication after diagnosis. Genetic testing is the only option for the definitive diagnosis of rare diseases, most of which are of genetic origin.
Early diagnosis saves lives in rare diseases
Gene2info, the Turkish player of the global bioinformatics industry, is breaking new ground in Turkey and our region with its technology and business model in the genetic diagnosis of rare diseases. Gene2info Co-Founder and CEO Bahadır Onay said, “The earlier the diagnosis is made in rare diseases of genetic origin and the sooner the treatment is started, the more normal the patients lead a normal life. In the treatment of some rare diseases, even the number of days spent for diagnosis becomes critical for patient life. Our innovative solutions based on bioinformatics, a science that combines genetics and software technologies, enable us to carry out the genetic diagnosis process as precisely and as quickly as possible. We know that when genetic diagnosis service is received from abroad, the waiting period for results can be up to 12 weeks. We, on the other hand, complete the end-to-end genetic diagnosis process entirely in Turkey in a period of 1 week. “Through our solutions, we enable doctors to diagnose rare diseases more quickly and help patients improve their quality of life.”
Bahadır Onay stated that they carry out studies to increase public awareness of diagnosis and treatment in Rare Diseases and added that they have completed their preparations to open a blog for the benefit of all relevant stakeholders in the very near future for this purpose.
Gene2info is currently conducting the genetic diagnosis process for 23 rare diseases
Gene2info offers an end-to-end solution to all physicians working on rare diseases in genetic diagnosis. The solution ranges from developing a disease-specific genetic diagnosis kit, taking the patient’s biological sample from the doctor, separating DNA from the biological sample with a genetic diagnosis kit in contracted laboratories, sequencing DNA with Next Generation Sequencing (NGS) methods, and creating a medical genetic diagnosis report with artificial intelligence-supported bioinformatics analysis. covers the entire process. Genetic testing is currently available for 23 rare diseases. Among the rare diseases tested are Cerebrotendinous Xanthomatosis (CTX), Hereditary Sucrase Isomaltase Deficiency (SI), Neuronal Ceroid Lipofuscinosis Type 2 (CLN2 Related Genes), Fabry, Gaucher, Niemann Pick, Mucopolysaccharidosis (MPS1), Pompe Disease (GAA), Adenosine Deaminase Deficiency (ADA) and X-Linked Hypophosphatemic Rickets (PHEX).
Source: (BHA) – Beyaz News Agency
