Prof. M.D. Yasemin Alanay

A 28-year-old competitive freediver from Antalya presented with unexplained episodes of syncope during deep dives. Dr. Alanay discovered a novel mutation in the RYR2 gene, typically associated with cardiac issues, but in this case causing abnormal oxygen sensing in carotid bodies. Treatment involved gene-specific lifestyle modifications and a custom hyperbaric protocol, allowing the patient to safely continue recreational diving at shallower depths.

A 42-year-old Kurdish rug weaver from Diyarbakır had seven miscarriages. Whole exome sequencing revealed both she and her husband carried recessive mutations in the PADI6 gene, causing recurrent hydatidiform moles. Dr. Alanay facilitated preimplantation genetic diagnosis, resulting in a successful pregnancy with a healthy daughter, while connecting the family with a rare disorder support network.

A 17-year-old elite ballet student from Istanbul presented with progressive joint hypermobility and chronic pain. Dr. Alanay diagnosed a previously undocumented COL5A1 variant causing a vascular Ehlers-Danlos subtype. The multidisciplinary approach included custom orthotics, proprioceptive training, and cardiovascular monitoring, preventing potential arterial complications while allowing modified dance participation.

A 55-year-old retired fisherman from the Black Sea region had developed bronze skin pigmentation and diabetes. Genetic testing revealed hereditary hemochromatosis with a rare HFE/TRF2 digenic inheritance pattern. Dr. Alanay implemented a precision phlebotomy schedule synchronized with seasonal fishing cycles, respecting the patient's cultural connection to maritime work.