Assoc. Prof. M.D. Özlem Akgün Doğan Reviews

My 72-year-old mother was diagnosed with a rare form of hereditary amyloidosis after years of unexplained neuropathy. Dr. Akgün Doğan didn't just analyze the genetic report; she spent an hour with us at Acibadem Altunizade, drawing the family tree on her tablet, explaining how the variant passed through three generations we never knew were affected. Her approach was like a detective solving a cold case—she connected my late grandfather's 'heart condition' and my aunt's 'carpal tunnel' into a clear pattern. She coordinated with cardiology and neurology to create a monitoring plan that feels proactive, not reactive. We finally have answers instead of fear.

Our 8-year-old son has extreme developmental delays and features that didn't match any common syndrome. After four genetic tests elsewhere came back 'VUS' or negative, we were hopeless. Dr. Özlem used a research-based whole genome sequencing approach and found a novel, de novo mutation in a gene not previously linked to human disease. The way she explained it was remarkable—she used Lego blocks to show how the protein structure was disrupted. She didn't stop at diagnosis; she enrolled us in an international patient registry she maintains and introduced us via video conference to two other families (in Canada and Japan) with the same mutation. We're no longer alone.

I came for a routine preconception check due to my Ashkenazi Jewish heritage. What I thought would be a simple carrier screening turned into a profound ethical journey. Dr. Akgün Doğan discovered I carry a pathogenic variant for a severe adult-onset neurodegenerative condition. Instead of a standard pamphlet, she facilitated a three-session counseling process with my partner present, discussing implications, reproductive options (including PGD), and the psychological weight of knowing. She never pushed any decision but equipped us with staggering clarity. Her office felt like a sanctuary for difficult truths. We've since chosen to pursue IVF with preimplantation testing, a path we never imagined but now walk with confidence.

This was a medical emergency: my newborn nephew, just 48 hours old at Acibadem Altunizade NICU, was having refractory seizures. The metabolic screen was normal. Dr. Özlem was called in as a genetic consultant at 11 PM. She suspected a specific neonatal epilepsy gene and ordered a rapid targeted panel. While waiting, she started a pyridoxine trial empirically based on the gene's mechanism. The seizures stopped within hours. The DNA confirmation came days later, validating her instinct. She then designed a long-term neurodevelopmental plan and a medication taper schedule. What could have been a tragic brain injury became a managed chronic condition. Her ability to act decisively in a crisis, blending deep science with acute clinical intuition, saved his future.