Newsroom
Researchers at the Cyprus Institute of Neurology and Genetics have created a new genetic testing method that is improving the way doctors identify inherited diseases during IVF treatment, according to an announcement from the institute.
The technique is already being applied in clinical cases and has helped couples avoid passing on conditions including beta-thalassemia, sickle cell anemia, cystic fibrosis and neurofibromatosis. Globally, about 50,000 children are born with beta-thalassemia each year.
The test is used through preimplantation genetic testing for monogenic disorders, known as PGT-M. This process allows embryos created through IVF to be screened before implantation so doctors can select embryos that do not carry specific inherited conditions.
Scientists at the institute said the new method can also handle difficult cases that were previously harder to test, including de novo mutations and situations where genetic samples from other family members are unavailable.
The development relies on long-read DNA sequencing, a technology that allows researchers to examine larger stretches of genetic material with greater speed and precision. In testing involving 12 families considered at high risk for inherited disorders, the results matched the expected genetic findings in every case.
Researchers also said the updated process cuts preparation time from several months to less than half that period, while requiring DNA samples only from the prospective parents.
The institute, which is the only center in Cyprus offering PGT-M services, said the technology is now available to couples from Cyprus and abroad seeking to reduce the risk of inherited diseases in their children.
